| Code | Display | Comments |
|---|
 100019-9 | ALK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100020-7 | GNA11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100021-5 | GNAQ gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100022-3 | IDH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100023-1 | IDH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100024-9 | SETBP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100025-6 | SRSF2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100026-4 | MET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100027-2 | SMAD4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100028-0 | FBXW7 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 100029-8 | Cancer related multigene analysis in Plasma cell-free DNA by Molecular genetics method | |
| 100213-8 | Prostate cancer multigene analysis in Blood or Tissue by Molecular genetics method | |
| 100305-2 | IDH1 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method | |
| 100306-0 | IDH2 gene exon 4 targeted mutation analysis [Presence] in Blood or Marrow by Molecular genetics method | |
| 100663-4 | TPMT gene c.460G>A and c.719A>G [Presence] in Blood by Molecular genetics method | |
| 100664-2 | NUDT15 gene c.50_55dup and c.415C>T [Presence] in Blood by Molecular genetics method | |
| 100665-9 | NUDT15 gene c.415C>T [Presence] in Blood by Molecular genetics method | |
| 100666-7 | NUDT15 gene c.416G>A [Presence] in Blood by Molecular genetics method | |
| 100667-5 | NUDT15 gene c.52G>A [Presence] in Blood by Molecular genetics method | |
| 100668-3 | NUDT15 gene c.50_55dup [Presence] in Blood by Molecular genetics method | |
| 100669-1 | NUDT15 gene c.50_55del [Presence] in Blood by Molecular genetics method | |
| 100670-9 | RHD gene allele [Identifier] in Plasma cell-free DNA Nominal--fetus | |
| 100694-9 | SMN1 gene silent carrier analysis [Presence] in Blood or Tissue by Molecular genetics method | |
| 100695-6 | Genetic disease analysis overall carrier interpretation in Blood or Tissue by Molecular genetics method Narrative | |
| 100696-4 | CTNS related multigene analysis [Identifier] in Bodyfluid and Serum or Plasma by Molecular genetics method Nominal | |
| 100717-8 | FCGR3A gene.p.Phe176Val [Presence] in Blood or Tissue by Molecular genetics method | |
| 100754-1 | Platelet disorders multigene analysis in Blood or Tissue by Sequencing | |
| 100761-6 | PALB2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 100762-4 | HBA2 gene.c.377T>C [Presence] in Blood by Molecular genetics method | |
| 10457-0 | Actin Ag [Presence] in Tissue by Immune stain | |
| 10458-8 | Alkaline phosphatase.placental Ag [Presence] in Tissue by Immune stain | |
| 10459-6 | Alpha-1-Fetoprotein Ag [Presence] in Tissue by Immune stain | |
| 10460-4 | Lactalbumin alpha Ag [Presence] in Tissue by Immune stain | |
| 10461-2 | Alpha-1-Antichymotrypsin Ag [Presence] in Tissue by Immune stain | |
| 10462-0 | Alpha 1 antitrypsin Ag [Presence] in Tissue by Immune stain | |
| 10463-8 | Amyloid A component Ag [Presence] in Tissue by Immune stain | |
| 10464-6 | Amyloid P component Ag [Presence] in Tissue by Immune stain | |
| 10465-3 | Amyloid.prealbumin Ag [Presence] in Tissue by Immune stain | |
| 10467-9 | Beta-2-Microglobulin amyloid Ag [Presence] in Tissue by Immune stain | |
| 10468-7 | Calcitonin Ag [Presence] in Tissue by Immune stain | |
| 10469-5 | Carcinoembryonic Ag [Presence] in Tissue by Immune stain | |
| 10470-3 | Choriogonadotropin Ag [Presence] in Tissue by Immune stain | |
| 10471-1 | Chromogranin A Ag [Presence] in Tissue by Immune stain | |
| 10472-9 | Chromogranin Ag [Presence] in Tissue by Immune stain | |
| 10473-7 | Chymotrypsin Ag [Presence] in Tissue by Immune stain | |
| 10474-5 | Collagen type 4 Ag [Presence] in Tissue by Immune stain | |
| 10475-2 | Corticotropin Ag [Presence] in Tissue by Immune stain | |
| 10476-0 | Desmin Ag [Presence] in Tissue by Immune stain | |
| 10477-8 | Enolase.neuron specific Ag [Presence] in Tissue by Immune stain | |
| 10478-6 | Eosinophil major basic protein Ag [Presence] in Tissue by Immune stain | |
| 10480-2 | Estrogen+Progesterone receptor Ag [Presence] in Tissue by Immune stain | |
| 10481-0 | Follitropin.alpha subunit Ag [Presence] in Tissue by Immune stain | |
| 10482-8 | Follitropin.beta subunit Ag [Presence] in Tissue by Immune stain | |
| 10483-6 | Gastrin Ag [Presence] in Tissue by Immune stain | |
| 10484-4 | Glial fibrillary acidic protein Ag [Presence] in Tissue by Immune stain | |
| 10485-1 | Glucagon Ag [Presence] in Tissue by Immune stain | |
| 10486-9 | Hemoglobin Ag [Presence] in Tissue by Immune stain | |
| 10487-7 | HMB-45 Ag [Presence] in Tissue by Immune stain | |
| 10488-5 | IgA Ag [Presence] in Tissue by Immune stain | |
| 10489-3 | IgA.heavy chain Ag [Presence] in Tissue by Immune stain | |
| 10490-1 | IgE Ag [Presence] in Tissue by Immune stain | |
| 10491-9 | IgG Ag [Presence] in Tissue by Immune stain | |
| 10492-7 | IgG.heavy chain Ag [Presence] in Tissue by Immune stain | |
| 10493-5 | IgM Ag [Presence] in Tissue by Immune stain | |
| 10494-3 | IgM.heavy chain Ag [Presence] in Tissue by Immune stain | |
| 10495-0 | Insulin Ag [Presence] in Tissue by Immune stain | |
| 10496-8 | Kappa light chains Ag [Presence] in Tissue by Immune stain | |
| 10497-6 | Immunoglobulin light chains.kappa amyloid Ag [Presence] in Tissue by Immune stain | |
| 10498-4 | Keratin Ag [Presence] in Tissue by Immune stain | |
| 10499-2 | Lambda light chains Ag [Presence] in Tissue by Immune stain | |
| 10500-7 | Immunoglobulin light chains.lambda amyloid Ag [Presence] in Tissue by Immune stain | |
| 10502-3 | Lutropin Ag [Presence] in Tissue by Immune stain | |
| 10503-1 | Lysozyme Ag [Presence] in Tissue by Immune stain | |
| 10504-9 | Myelin basic protein Ag [Presence] in Tissue by Immune stain | |
| 10505-6 | Myoglobin Ag [Presence] in Tissue by Immune stain | |
| 10506-4 | Peanut agglutinin Ag [Presence] in Tissue by Immune stain | |
| 10507-2 | Prolactin Ag [Presence] in Tissue by Immune stain | |
| 10508-0 | Prostate specific Ag [Presence] in Tissue by Immune stain | |
| 10509-8 | Prostatic acid phosphatase Ag [Presence] in Tissue by Immune stain | |
| 10510-6 | S-100 Ag [Presence] in Tissue by Immune stain | |
| 10511-4 | Serotonin Ag [Presence] in Tissue by Immune stain | |
| 10512-2 | Somatostatin Ag [Presence] in Tissue by Immune stain | |
| 10513-0 | Somatotropin Ag [Presence] in Tissue by Immune stain | |
| 10514-8 | Synaptophysin Ag [Presence] in Tissue by Immune stain | |
| 10515-5 | Thyroglobulin Ag [Presence] in Tissue by Immune stain | |
| 10516-3 | Thyrotropin Ag [Presence] in Tissue by Immune stain | |
| 10517-1 | Trypsin Ag [Presence] in Tissue by Immune stain | |
| 10518-9 | Ulex europaeus I lectin Ag [Presence] in Tissue by Immune stain | |
| 10519-7 | Vimentin Ag [Presence] in Tissue by Immune stain | |
| 10524-7 | Microscopic observation [Identifier] in Cervix by Cyto stain | |
| 10525-4 | Microscopic observation [Identifier] in Specimen by Cyto stain | |
| 10526-2 | Microscopic observation [Identifier] in Sputum by Cyto stain | |
| 10527-0 | Microscopic observation [Identifier] in Tissue by Cyto stain | |
| 10740-9 | Aluminum.microscopic observation [Identifier] in Bone by Histomorphometry stain | |
| 10741-7 | Amyloid.microscopic observation [Identifier] in Brain by Thioflavine-S stain | |
| 10742-5 | Amyloid.microscopic observation [Identifier] in Tissue by Bennhold stain.Putchler modified | |
| 10743-3 | Amyloid.microscopic observation [Identifier] in Tissue by Highman stain | |
| 10744-1 | Amyloid.microscopic observation [Identifier] in Tissue by Vassar-culling stain | |
| 10745-8 | Bile.microscopic observation [Identifier] in Tissue by Fouchet stain | |
| 10746-6 | Calcium.microscopic observation [Identifier] in Tissue by Von Kossa stain | |
| 10747-4 | Collagen fibers+Elastic fibers.microscopic observation [Identifier] in Tissue by Lawson-Van Gieson stain | |
| 10748-2 | Collagen fibers+Elastic fibers.microscopic observation [Identifier] in Tissue by Verhoeff-Van Gieson stain | |
| 10749-0 | Collagen fibers.microscopic observation [Identifier] in Tissue by Van Gieson stain | |
| 10750-8 | Connective tissue.microscopic observation [Identifier] in Tissue by Trichrome stain.Masson | |
| 10751-6 | Copper.microscopic observation [Identifier] in Tissue by Rhodamine stain | |
| 10752-4 | Fat.microscopic observation [Identifier] in Milk by Sudan IV stain | |
| 10754-0 | Fat.microscopic observation [Identifier] in Tissue by Sudan IV stain | |
| 10755-7 | Fungus.microscopic observation [Identifier] in Tissue by Methenamine silver stain.Grocott | |
| 10756-5 | Glial fibers.microscopic observation [Identifier] in Tissue by Holzer stain | |
| 10757-3 | Hematologic+Nuclear elements.microscopic observation [Identifier] in Tissue by Giemsa stain.May-Grunwald | |
| 10758-1 | Iron.microscopic observation [Identifier] in Bone by Histomorphometry stain | |
| 10759-9 | Iron.microscopic observation [Identifier] in Sputum by Gomori stain | |
| 10760-7 | Iron.microscopic observation [Identifier] in Tissue by Gomori stain | |
| 10761-5 | Iron.microscopic observation [Identifier] in Tissue by Other stain | |
| 10762-3 | Microscopic observation [Identifier] in Blood by Hemosiderin stain | |
| 10763-1 | Microscopic observation [Identifier] in Body fluid by Sudan black stain | |
| 10764-9 | Microscopic observation [Identifier] in Sputum by Silver stain | |
| 10765-6 | Microscopic observation [Identifier] in Tissue by Acetate esterase stain | |
| 10766-4 | Microscopic observation [Identifier] in Tissue by Alcian blue stain | |
| 10767-2 | Microscopic observation [Identifier] in Tissue by Alcian blue stain.sulfated | |
| 10768-0 | Microscopic observation [Identifier] in Tissue by Alcian blue stain.with periodic acid-Schiff | |
| 10769-8 | Microscopic observation [Identifier] in Tissue by Alizarin red S stain | |
| 10770-6 | Microscopic observation [Identifier] in Tissue by Argentaffin stain | |
| 10771-4 | Deprecated Microscopic observation [Identifier] in Tissue by Rhodamine-auramine fluorochrome stain | |
| 10772-2 | Microscopic observation [Identifier] in Tissue by Azure-eosin stain | |
| 10773-0 | Microscopic observation [Identifier] in Tissue by Basic fuchsin stain | |
| 10774-8 | Microscopic observation [Identifier] in Tissue by Bielschowsky stain | |
| 10775-5 | Microscopic observation [Identifier] in Tissue by Bleach stain | |
| 10776-3 | Microscopic observation [Identifier] in Tissue by Bodian stain | |
| 10777-1 | Microscopic observation [Identifier] in Tissue by Brown and Brenn stain | |
| 10778-9 | Microscopic observation [Identifier] in Tissue by Butyrate esterase stain | |
| 10779-7 | Microscopic observation [Identifier] in Tissue by Carmine stain.Best | |
| 10780-5 | Microscopic observation [Identifier] in Tissue by Chloracetate esterase stain | |
| 10781-3 | Microscopic observation [Identifier] in Tissue by Churukian-Schenk stain | |
| 10782-1 | Microscopic observation [Identifier] in Tissue by Congo red stain | |
| 10783-9 | Microscopic observation [Identifier] in Tissue by Crystal violet stain | |
| 10784-7 | Microscopic observation [Identifier] in Tissue by Esterase stain.non-specific | |
| 10785-4 | Microscopic observation [Identifier] in Tissue by Fite-Faraco stain | |
| 10786-2 | Deprecated Microscopic observation [Identifier] in Tissue by Giemsa stain.3 micron | |
| 10787-0 | Microscopic observation [Identifier] in Tissue by Gridley stain | |
| 10788-8 | Microscopic observation [Identifier] in Tissue by Hansel stain | |
| 10789-6 | Microscopic observation [Identifier] in Tissue by Hematoxylin-eosin-Harris regressive stain | |
| 10790-4 | Microscopic observation [Identifier] in Tissue by Hematoxylin-eosin-Mayers progressive stain | |
| 10791-2 | Microscopic observation [Identifier] in Tissue by Mallory-Heidenhain stain | |
| 10792-0 | Microscopic observation [Identifier] in Tissue by Methenamine silver stain.Jones | |
| 10793-8 | Microscopic observation [Identifier] in Tissue by Methyl green stain | |
| 10794-6 | Microscopic observation [Identifier] in Tissue by Methyl green-pyronine Y stain | |
| 10795-3 | Microscopic observation [Identifier] in Tissue by Methyl violet stain | |
| 10796-1 | Microscopic observation [Identifier] in Tissue by Mucicarmine stain | |
| 10797-9 | Microscopic observation [Identifier] in Tissue by Neutral red stain | |
| 10798-7 | Microscopic observation [Identifier] in Tissue by Oil red O stain | |
| 10799-5 | Microscopic observation [Identifier] in Tissue by Pentachrome stain.Movat | |
| 10800-1 | Microscopic observation [Identifier] in Tissue by Periodic acid-Schiff stain with diatase digestion | |
| 10801-9 | Microscopic observation [Identifier] in Tissue by Phosphotungstic acid Hematoxylin (PTAH) Stain | |
| 10802-7 | Microscopic observation [Identifier] in Tissue by Prussian blue stain | |
| 10803-5 | Microscopic observation [Identifier] in Tissue by Quinacrine fluorescent stain | |
| 10804-3 | Microscopic observation [Identifier] in Tissue by Reticulin stain | |
| 10805-0 | Microscopic observation [Identifier] in Tissue by Safranin stain | |
| 10806-8 | Microscopic observation [Identifier] in Tissue by Schmorl stain | |
| 10807-6 | Microscopic observation [Identifier] in Tissue by Sevier-Munger stain | |
| 10808-4 | Microscopic observation [Identifier] in Tissue by Silver impregnation stain.Dieterle | |
| 10809-2 | Microscopic observation [Identifier] in Tissue by Silver nitrate stain | |
| 10810-0 | Microscopic observation [Identifier] in Tissue by Silver stain.Fontana-Masson | |
| 10811-8 | Microscopic observation [Identifier] in Tissue by Silver stain.Grimelius | |
| 10812-6 | Microscopic observation [Identifier] in Tissue by Steiner stain | |
| 10813-4 | Microscopic observation [Identifier] in Tissue by Sudan black stain | |
| 10814-2 | Microscopic observation [Identifier] in Tissue by Supravital stain | |
| 10815-9 | Microscopic observation [Identifier] in Tissue by Tetrachrome stain | |
| 10816-7 | Deprecated Microscopic observation [Identifier] in Tissue by Toluidine blue O stain | |
| 10817-5 | Microscopic observation [Identifier] in Tissue by Trichrome stain.Gomori-Wheatley | |
| 10818-3 | Microscopic observation [Identifier] in Tissue by Trichrome stain.Masson modified | |
| 10819-1 | Microscopic observation [Identifier] in Tissue by Wade stain | |
| 10820-9 | Deprecated Microscopic observation [Identifier] in Tissue by Warthin-Starry stain | |
| 10821-7 | Deprecated Microscopic observation [Identifier] in Tissue by Wright Giemsa stain | |
| 10822-5 | Mucin.microscopic observation [Identifier] in Tissue by Mucicarmine stain.Mayer | |
| 10823-3 | Mucopolysaccharides.microscopic observation [Identifier] in Tissue by Colloidal ferric oxide stain.Hale | |
| 10824-1 | Myelin+Myelin breakdown products.microscopic observation [Identifier] in Tissue by Luxol fast blue/Periodic acid-Schiff stain | |
| 10825-8 | Myelin+Nerve cells.microscopic observation [Identifier] in Tissue by Luxol fast blue/Cresyl violet stain | |
| 10826-6 | Nissel.microscopic observation [Identifier] in Tissue by Cresyl echt violet stain | |
| 10827-4 | Reticulum.microscopic observation [Identifier] in Tissue by Gomori stain | |
| 10828-2 | Urate crystals.microscopic observation [type] in Tissue by De Galantha stain | |
| 10861-3 | Progesterone receptor [Mass/mass] in Tissue | |
| 11016-3 | Microscopic observation [Identifier] in Blood or Marrow by Esterase stain.non-specific | |
| 11017-1 | Microscopic observation [Identifier] in Blood or Marrow by Chloracetate esterase stain | |
| 11018-9 | Microscopic observation [Identifier] in Blood or Marrow by Peroxidase stain | |
| 11019-7 | Microscopic observation [Identifier] in Blood or Marrow by Sudan black B stain | |
| 11020-5 | Microscopic observation [Identifier] in Blood or Marrow by Tartrate-resistant acid phosphatase stain | |
| 11021-3 | Microscopic observation [Identifier] in Blood or Marrow by Terminal deoxynucleotidyl transferase stain | |
| 11068-4 | Microscopic observation [Identifier] in Body fluid by Cyto stain | |
| 11069-2 | Microscopic observation [Identifier] in Gastric fluid by Cyto stain | |
| 11070-0 | Microscopic observation [Identifier] in Urine by Cyto stain | |
| 11270-6 | Viral inclusion bodies [Identifier] in Specimen by Cyto stain | |
| 11526-1 | Pathology study | |
| 11529-5 | Surgical pathology study | |
| 11552-7 | Microscopic exam [Interpretation] of Tissue fine needle aspirate by Cytology | |
| 11553-5 | Microscopic exam [Interpretation] of Sputum by Cytology | |
| 13531-9 | Fat.microscopic observation [Presence] in Sputum by Sudan III stain | |
| 13659-8 | Epidermal growth factor receptor [Mass/mass] in Tissue | |
| 14050-9 | Epidermal growth factor receptor [Moles/mass] in Tissue | |
| 14130-9 | Estrogen receptor [Moles/mass] in Tissue | |
| 14228-1 | Cells.estrogen receptor/100 cells in Tissue by Immune stain | |
| 14229-9 | P53 protein Ag [Presence] in Tissue by Immune stain | |
| 14230-7 | Cells.progesterone receptor/100 cells in Tissue by Immune stain | |
| 15211-6 | Biopsy [Interpretation] in Thyroid Narrative | |
| 15354-4 | Bombesin Ag [Presence] in Tissue by Immune stain | |
| 16112-5 | Estrogen receptor [Interpretation] in Tissue | |
| 16113-3 | Progesterone receptor [Interpretation] in Tissue | |
| 16856-7 | Fat.microscopic observation [Identifier] in Synovial fluid by Sudan IV stain | |
| 18328-5 | Microscopic observation [Identifier] in Body fluid by Other stain | |
| 18474-7 | HER2 Ag [Presence] in Tissue by Immune stain | |
| 18497-8 | Microscopic observation [Identifier] in Thyroid fine needle aspirate by Cyto stain | |
| 18498-6 | Microscopic observation [Identifier] in Breast fine needle aspirate by Cyto stain | |
| 18499-4 | Microscopic observation [Identifier] in Nipple discharge by Cyto stain | |
| 18500-9 | Microscopic observation [Identifier] in Cervix by Cyto stain.thin prep | |
| 18501-7 | Microscopic observation [Identifier] in Buccal smear by Cyto stain | |
| 18502-5 | Microscopic observation [Identifier] in Deep tissue fine needle aspirate by Cyto stain | |
| 18503-3 | Microscopic observation [Identifier] in Superficial tissue fine needle aspirate by Cyto stain | |
| 19102-3 | Genetic screen in Specimen by Molecular genetics method Narrative | |
| 19762-4 | General categories [Interpretation] of Cervical or vaginal smear or scraping by Cyto stain | |
| 19763-2 | Specimen source [Identifier] in Cervical or vaginal smear or scraping by Cyto stain | |
| 19764-0 | Statement of adequacy [Interpretation] of Cervical or vaginal smear or scraping by Cyto stain | |
| 19765-7 | Microscopic observation [Identifier] in Cervical or vaginal smear or scraping by Cyto stain | |
| 19766-5 | Microscopic observation [Identifier] in Cervical or vaginal smear or scraping by Cyto stain Narrative | |
| 19767-3 | Cytologist who read Cyto stain of Cervical or vaginal smear or scraping | |
| 19768-1 | Reviewing cytologist who read Cyto stain of Cervical or vaginal smear or scraping | |
| 19769-9 | Pathologist who read Cyto stain of Cervical or vaginal smear or scraping | |
| 19770-7 | Deprecated Specimen source [Identifier] in Cervical or vaginal smear or scraping by Cyto stain | |
| 19771-5 | Screening techniques [Identifier] in Cervical or vaginal smear or scraping by Cyto stain | |
| 19772-3 | Preparation techniques [Type] in Cervical or vaginal smear or scraping by Cyto stain | |
| 19773-1 | Recommended follow-up [Identifier] in Cervical or vaginal smear or scraping by Cyto stain | |
| 19774-9 | Cytology study comment Cervical or vaginal smear or scraping Cyto stain | |
| 20990-8 | APC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21024-5 | Pathologist interpretation of Cerebral spinal fluid tests | |
| 21025-2 | Pathologist interpretation of Body fluid tests | |
| 21026-0 | Pathologist interpretation of Blood tests | |
| 21081-5 | ASPA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21095-5 | BCL2 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21176-3 | Cerebroventricular lining cells [Presence] in Cerebral spinal fluid by Light microscopy | |
| 21177-1 | Deprecated CFTR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21207-6 | CCR5 gene mutations found [Identifier] in Blood by Molecular genetics method Nominal | |
| 21247-2 | DMD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21391-8 | Microscopic observation [Identifier] in Bone by Acid phosphatase stain | |
| 21551-7 | t(15;17)(q24.1;q21.1)(PML,RARA) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21614-3 | CDKN2A gene deletion [Presence] in Blood or Tissue by Molecular genetics method | |
| 21615-0 | CDKN2B gene deletion [Presence] in Blood or Tissue by Molecular genetics method | |
| 21616-8 | Deprecated APC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21617-6 | APC gene p.Ile1307Lys [Presence] in Blood or Tissue by Molecular genetics method | |
| 21618-4 | APC gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21619-2 | APOE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21620-0 | STS gene deletion [Presence] in Blood or Tissue by Molecular genetics method | |
| 21622-6 | ASPA gene p.Glu285Ala [Presence] in Blood or Tissue by Molecular genetics method | |
| 21623-4 | ASPA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21624-2 | ATM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21625-9 | ATM gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21626-7 | ATP7B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21627-5 | ATP7B gene c.2010_2016del [Presence] in Blood or Tissue by Molecular genetics method | |
| 21628-3 | ATP7B gene c.2337delC [Presence] in Blood or Tissue by Molecular genetics method | |
| 21629-1 | ATP7B gene c.2487insT [Presence] in Blood or Tissue by Molecular genetics method | |
| 21630-9 | ATP7B gene c.1711G>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 21631-7 | ATP7B gene p.Gly1267Arg [Presence] in Blood or Tissue by Molecular genetics method | |
| 21632-5 | ATP7B gene p.His1070Gln [Presence] in Blood or Tissue by Molecular genetics method | |
| 21633-3 | ATP7B gene p.His714Gln [Presence] in Blood or Tissue by Molecular genetics method | |
| 21634-1 | ATP7B gene p.Asn915Ser [Presence] in Blood or Tissue by Molecular genetics method | |
| 21635-8 | ATP7B gene p.Arg778Leu [Presence] in Blood or Tissue by Molecular genetics method | |
| 21636-6 | BRCA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21637-4 | BRCA1 gene.c.185 del AG [presence] in Blood or Tissue by Molecular genetics method | |
| 21638-2 | BRCA1 gene c.5382insC [Presence] in Blood or Tissue by Molecular genetics method | |
| 21639-0 | BRCA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21640-8 | BRCA2 gene c.6174delT [Presence] in Blood or Tissue by Molecular genetics method | |
| 21641-6 | CACNA1S gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21642-4 | CACNA1S gene p.Arg1239Gly [Presence] in Blood or Tissue by Molecular genetics method | |
| 21643-2 | CACNA1S gene p.Arg1239His [Presence] in Blood or Tissue by Molecular genetics method | |
| 21644-0 | CACNA1S gene p.Arg528His [Presence] in Blood or Tissue by Molecular genetics method | |
| 21645-7 | CACNA1S gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21646-5 | CBS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21647-3 | Deprecated CBS gene p.G307S [Presence] in Blood or Tissue by Molecular genetics method | |
| 21648-1 | Deprecated CBS gene p.I278T [Presence] in Blood or Tissue by Molecular genetics method | |
| 21649-9 | CBS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21650-7 | Deprecated CCR5 gene mutations found [Identifier] in Blood by Molecular genetics method Nominal | |
| 21651-5 | CCR5 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21652-3 | CDH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21653-1 | CDH1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21654-9 | CFTR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21655-6 | CFTR gene.p.Phe508del [Presence] in Blood or Tissue by Molecular genetics method | |
| 21656-4 | CFTR gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21657-2 | COL2A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21658-0 | COL2A1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21659-8 | CTNNB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21660-6 | CTNNB1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21661-4 | CYP2D6 gene deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21662-2 | CYP2D6 gene c.2637delA [Presence] in Blood or Tissue by Molecular genetics method | |
| 21663-0 | Deprecated CYP2D6 gene G-A NT1 X4 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21664-8 | CYP2D6 gene p.Gly169Ter [Presence] in Blood or Tissue by Molecular genetics method | |
| 21665-5 | EGFR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21666-3 | EGFR gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21667-1 | F5 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21668-9 | F5 gene p.Arg506Gln [Presence] in Blood or Tissue by Molecular genetics method | |
| 21669-7 | F5 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21670-5 | F7 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21671-3 | F7 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21672-1 | F8 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21673-9 | F8 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21674-7 | FGFR2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21675-4 | FGFR2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21676-2 | FGFR3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21677-0 | FGFR3 gene p.Gly375Cys [Presence] in Blood or Tissue by Molecular genetics method | |
| 21678-8 | FGFR3 gene p.Gly380Arg [Presence] in Blood or Tissue by Molecular genetics method | |
| 21679-6 | FGFR3 gene p.Lys650Glu [Presence] in Blood or Tissue by Molecular genetics method | |
| 21680-4 | G6PD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21681-2 | G6PD gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21682-0 | Gaucher 1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21683-8 | Gaucher 2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21684-6 | Gaucher 3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21685-3 | HADHB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21686-1 | HADHB gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21687-9 | HBA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21688-7 | HBA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21689-5 | HBB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21690-3 | HBB gene p.Glu6Val [Presence] in Blood or Tissue by Molecular genetics method | |
| 21691-1 | HBB gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21692-9 | PRSS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21693-7 | HP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21694-5 | HFE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21695-2 | HFE gene.p.Cys282Tyr [Presence] in Blood or Tissue by Molecular genetics method | |
| 21696-0 | HFE gene p.His63Asp [Presence] in Blood or Tissue by Molecular genetics method | |
| 21697-8 | HFE gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21698-6 | HRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21699-4 | HRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21700-0 | Kallmann syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21701-8 | Kallmann syndrome gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21702-6 | KRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21703-4 | KRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21704-2 | MT-ATP6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21705-9 | MT-ND4 gene m.11696G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 21706-7 | Deprecated MT-ND4 gene p.R304H [Presence] in Blood or Tissue by Molecular genetics method | |
| 21707-5 | MT-ND4 gene p.Thr109Ala [Presence] in Blood or Tissue by Molecular genetics method | |
| 21708-3 | Deprecated MT-ATP6 gene p.L156R [Presence] in Blood or Tissue by Molecular genetics method | |
| 21709-1 | MTHFR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21710-9 | Deprecated MTHFR gene p.Ala677Val [Presence] in Blood or Tissue by Molecular genetics method | |
| 21711-7 | Deprecated MTHFR gene p.Cys677Glu [Presence] in Blood or Tissue by Molecular genetics method | |
| 21712-5 | MTHFR gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21713-3 | MT-TK gene m.8344A>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 21714-1 | MT-TL1 gene m.3243A>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 21715-8 | MXI1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21716-6 | NB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21717-4 | NF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21718-2 | NF1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21719-0 | NRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21720-8 | NRAS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21721-6 | OTC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21722-4 | OTC gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21723-2 | SERPINA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21724-0 | SERPINA1 gene p.Glu264Val [Presence] in Blood or Tissue by Molecular genetics method | |
| 21725-7 | SERPINA1 gene p.Glu342Lys [Presence] in Blood or Tissue by Molecular genetics method | |
| 21726-5 | SERPINA1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21727-3 | PMP22 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21728-1 | PMP22 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21729-9 | PSAP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21730-7 | PSAP gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21731-5 | RB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21732-3 | RB1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21733-1 | RET gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21734-9 | RET gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21735-6 | SNCA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21736-4 | SNCA gene p.Ala30Pro [Presence] in Blood or Tissue by Molecular genetics method | |
| 21737-2 | SNCA gene p.Ala53Thr [Presence] in Blood or Tissue by Molecular genetics method | |
| 21738-0 | SNCA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21739-8 | TP53 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21740-6 | TRAF3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21741-4 | TRAF3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21742-2 | WT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 21743-0 | WT1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21744-8 | CCND1 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21745-5 | Deprecated BCL2 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21746-3 | BCL6 gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21747-1 | HC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21748-9 | Kappa LC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21749-7 | Lambda LC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21750-5 | MYC gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21751-3 | TCRB gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21752-1 | TCRD gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21753-9 | TCRG gene rearrangements [Presence] in Blood or Tissue by Molecular genetics method | |
| 21754-7 | AR gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21755-4 | CACNA1A gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21756-2 | ATN1 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21757-0 | DMPK gene CTG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21759-6 | FMR1 gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21760-4 | FRAXE gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21761-2 | Deprecated FRAXE gene CGG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21762-0 | FXN gene GAA repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21763-8 | HTT gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21764-6 | MJD gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21765-3 | SCA1 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21766-1 | SCA2 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21767-9 | SCA7 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21768-7 | SCA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 21769-5 | SCA genes CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 21770-3 | Chromosome 12 trisomy [Presence] in Blood or Tissue by Cytogenetics | |
| 21771-1 | Chromosome 21 trisomy [Presence] in Blood or Tissue by Cytogenetics | |
| 21772-9 | Chromosome 7 trisomy [Presence] in Blood or Tissue by Cytogenetics | |
| 21773-7 | Chromosome 8 trisomy [Presence] in Blood or Tissue by Cytogenetics | |
| 21774-5 | Chromosome 9 trisomy [Presence] in Blood or Tissue by Cytogenetics | |
| 21775-2 | t(1;13)(p36.13;q14.1)(PAX7,FOXO1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21776-0 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21777-8 | t(11;14)(q13;q32)(CCND1,IGH) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21778-6 | t(11;19)(q23;p13.3)(MLL,MLLT1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21779-4 | t(11;22)(q24;q12.2)(FLI1,EWSR1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21780-2 | t(11;22)(p13;q12.2)(WT1,EWSR1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21781-0 | t(12;16)(q13;p11.2)(DDIT3,FUS) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21782-8 | t(12;21)(p13;q22.3)(ETV6,RUNX1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21783-6 | t(12;22)(q13;q12.2)(ATF1,EWSR1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21784-4 | t(14;18)(q32;q21.3)(IGH,BCL2) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21785-1 | t(15;17)(q24.1;q21.1)(PML,RARA) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21786-9 | t(2;13)(q36.1;q14.4)(PAX3,FOXO1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21787-7 | t(2;5)(p23;q35.1)(ALK,NPM1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21788-5 | t(21;22)(q22.3;q12.2)(ERG,EWSR1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21789-3 | t(4;11)(q21.3;q23)(AFF1,MLL) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21790-1 | t(5;12)(q33.1;p13)(PDGFRB,ETV6) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21791-9 | t(6;9)(p22;q34)(DEK,NUP214) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21792-7 | t(8;14)(q24;q32)(MYC,IGH) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21793-5 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21794-3 | t(9;11)(p22;q23)(MLLT3,MLL) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21795-0 | t(9;22)(q34.1;q11)(ABL1,BCR) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21796-8 | t(9;22)(q22;q12.2)(NR4A3,EWSR1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21797-6 | t(X;18)(q11.2;p11.23)(SS18,SSX1) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21798-4 | t(X;18)(q11.2;p11.22)(SS18,SSX2) cells/Cells.total in Blood or Tissue by Molecular genetics method | |
| 21799-2 | t(1;13)(p36.13;q14.1)(PAX7,FOXO1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21800-8 | t(1;19)(q23.3;p13.3)(PBX1,TCF3) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21801-6 | t(11;14)(q13;q32)(CCND1,IGH) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21802-4 | t(11;19)(q23;p13.3)(MLL,MLLT1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21803-2 | t(11;22)(q24;q12.2)(FLI1,EWSR1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21804-0 | t(11;22)(p13;q12.2)(WT1,EWSR1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21805-7 | t(12;16)(q13;p11.2)(DDIT3,FUS) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21806-5 | t(12;21)(p13;q22.3)(ETV6,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21807-3 | t(12;22)(q13;q12.2)(ATF1,EWSR1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21808-1 | t(14;18)(q32;q21.3)(IGH,BCL2) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21809-9 | t(14;18)(q32;q21.3)(IGH,BCL2) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method | |
| 21810-7 | t(14;18)(q32;q21.3)(IGH,BCL2) fusion transcript minor break points [Presence] in Blood or Tissue by Molecular genetics method | |
| 21811-5 | Deprecated t(15,17)(PML,RARA) Translocation [Presence] in Blood or Tissue by Molecular genetics method | |
| 21812-3 | t(2;13)(q36.1;q14.4)(PAX3,FOXO1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21813-1 | t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21814-9 | t(21;22)(q22.3;q12.2)(ERG,EWSR1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21815-6 | t(4;11)(q21.3;q23)(AFF1,MLL) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21816-4 | t(5;12)(q33.1;p13)(PDGFRB,ETV6) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21817-2 | t(6;9)(p22;q34)(DEK,NUP214) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21818-0 | t(8;14)(q24;q32)(MYC,IGH) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21819-8 | t(8;21)(q22;q22.3)(RUNX1T1,RUNX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21820-6 | t(9;11)(p22;q23)(MLLT3,MLL) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21821-4 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21822-2 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript major break points [Presence] in Blood or Tissue by Molecular genetics method | |
| 21823-0 | t(9;22)(q34.1;q11)(ABL1,BCR) fusion transcript minor break points [Presence] in Blood or Tissue by Molecular genetics method | |
| 21824-8 | t(9;22)(q22;q12.2)(NR4A3,EWSR1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21825-5 | t(X;18)(q11.2;p11.23)(SS18,SSX1) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 21826-3 | t(X;18)(q11.2;p11.22)(SS18,SSX2) fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 22066-5 | PRSS1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 22067-3 | NB gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 22068-1 | MXI1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 22069-9 | MT-ATP6 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 22070-7 | HP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 22071-5 | Gaucher 3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 22072-3 | Gaucher 2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 22073-1 | Gaucher 1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 22074-9 | FGFR3 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 22075-6 | DMD gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 22076-4 | Deprecated CCR5 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 24475-6 | F2 gene c.20210G>A [Genotype] in Blood or Tissue by Molecular genetics method Nominal | |
| 24476-4 | F2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 24477-2 | F2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 27045-4 | Microscopic exam [Interpretation] of Urine by Cytology | |
| 27984-4 | SCA8 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 28005-7 | MTHFR gene c.677C>T [Genotype] in Blood or Tissue by Molecular genetics method Nominal | |
| 28060-2 | MTHFR gene c.1298A>C [Genotype] in Blood or Tissue by Molecular genetics method Nominal | |
| 29540-2 | E-cadherin [Presence] in Tissue by Immune stain | |
| 29770-5 | Karyotype [Identifier] in Blood or Tissue Nominal | |
| 29863-8 | IgD Ag [Presence] in Tissue by Immune stain | |
| 30005-3 | CYP21A2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 30080-6 | Cathepsin D [Presence] in Tissue by Immune stain | |
| 30911-2 | DNA ploidy [Identifier] in Specimen by Flow cytometry (FC) Nominal | |
| 30912-0 | DNA index in Specimen by Flow cytometry (FC) | |
| 30913-8 | S-phase cells/100 cells in Specimen by Flow cytometry (FC) | |
| 30914-6 | Hyperdiploid cells/100 cells in Specimen by Flow cytometry (FC) | |
| 30915-3 | Aneuploid cells/100 cells in Specimen by Flow cytometry (FC) | |
| 30916-1 | Euploid+Aneuploid cells/100 cells in Specimen | |
| 30917-9 | DNA ploidy [Interpretation] in Specimen by Flow cytometry (FC) Narrative | |
| 31114-2 | Aneuploid cell population 1/100 cells in Specimen | |
| 31115-9 | Aneuploid cell population 2/100 cells in Specimen | |
| 31116-7 | Euploid+Aneuploid cells population 1/100 cells in Specimen | |
| 31117-5 | Euploid+Aneuploid cells population 2/100 cells in Specimen | |
| 31118-3 | G2+M phase cells/100 cells in Specimen | |
| 31149-8 | P53 protein Ag/100 cells in Tissue by Immune stain | |
| 31150-6 | ERBB2 gene duplication [Presence] in Tissue by FISH | |
| 31187-8 | Microscopic observation [Identifier] in Lymph node fine needle aspirate by Cyto stain | |
| 31188-6 | Microscopic observation [Identifier] in Kidney fine needle aspirate by Cyto stain | |
| 31189-4 | Microscopic observation [Identifier] in Neck mass fine needle aspirate by Cyto stain | |
| 31190-2 | Microscopic observation [Identifier] in Salivary gland fine needle aspirate by Cyto stain | |
| 31191-0 | Microscopic observation [Identifier] in Prostate fine needle aspirate by Cyto stain | |
| 31192-8 | Microscopic observation [Identifier] in Liver fine needle aspirate by Cyto stain | |
| 31193-6 | Microscopic observation [Identifier] in Pancreas fine needle aspirate by Cyto stain | |
| 31194-4 | Microscopic observation [Identifier] in Submandibular fine needle aspirate by Cyto stain | |
| 31195-1 | Microscopic observation [Identifier] in Soft tissue fine needle aspirate by Cyto stain | |
| 31196-9 | Microscopic observation [Identifier] in Abdomen fine needle aspirate by Cyto stain | |
| 31197-7 | Microscopic observation [Identifier] in Pelvis fine needle aspirate by Cyto stain | |
| 31198-5 | Microscopic observation [Identifier] in Parotid fine needle aspirate by Cyto stain | |
| 31199-3 | Microscopic observation [Identifier] in Lung fine needle aspirate by Cyto stain | |
| 31207-4 | Progesterone receptor [Moles/mass] in Tissue | |
| 32151-3 | Microscopic observation [Identifier] in Vaginal fluid by Non-gynecological cytology method | |
| 32565-4 | Deprecated MJD gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 32581-1 | Epidermal growth factor receptor Ag [Presence] in Tissue by Immune stain | |
| 32628-0 | ACADM gene c.985A>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 32630-6 | MSH2 gene+MLH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 32632-2 | HEXA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 32639-7 | FANCC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 32640-5 | BLM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 32641-3 | SMPD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 32653-8 | DYS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 32785-8 | Microscopic observation [Identifier] in Specimen by Non-gynecological cytology method | |
| 32798-1 | Microscopic observation [Identifier] in Specimen by Oil red O stain | |
| 32812-0 | Microscopic observation [Identifier] in Bronchial specimen by Oil red O stain | |
| 32813-8 | Pathologist interpretation of Bronchial specimen tests | |
| 32814-6 | Microscopic observation [Identifier] in Specimen by Chloracetate esterase stain | |
| 32815-3 | Microscopic observation [Identifier] in Specimen by Sudan black B stain | |
| 32816-1 | Microscopic observation [Identifier] in Specimen by Terminal deoxynucleotidyl transferase stain | |
| 32817-9 | Microscopic observation [Identifier] in Specimen by Myeloperoxidase stain | |
| 32818-7 | Microscopic observation [Identifier] in Specimen by Acetate esterase stain | |
| 32824-5 | Microscopic observation [Identifier] in Specimen by Tartrate-resistant acid phosphatase stain | |
| 32996-1 | HER2 [Mass/volume] in Serum | |
| 33054-8 | BCL2 Ag [Presence] in Tissue by Immune stain | |
| 33675-0 | Microscopic observation [Identifier] in Specimen by Esterase stain.combined | |
| 33716-2 | Non-gynecological cytology study | |
| 33718-8 | Cytology report of Tissue fine needle aspirate Cyto stain | |
| 33721-2 | Bone marrow Pathology biopsy report | |
| 33722-0 | Deprecated CAP cancer protocols Collection method | |
| 33723-8 | Specimen length | |
| 33724-6 | Collection method - | |
| 33725-3 | Tumor site | |
| 33726-1 | Macroscopic tumor configuration | |
| 33727-9 | Deprecated Macroscopic tumor configuration by CAP cancer protocols | |
| 33728-7 | Size.maximum dimension in Tumor | |
| 33729-5 | Size additional dimension in Tumor | |
| 33730-3 | Resection completeness in Mesorectum Qualitative by Macroscopy | |
| 33731-1 | Histology type in Cancer specimen Narrative | |
| 33732-9 | Histology grade [Identifier] in Cancer specimen | |
| 33733-7 | Sites of distant metastasis | |
| 33734-5 | Surgical margin tumor involvement.proximal by CAP cancer protocols | |
| 33735-2 | Surgical margin tumor involvement.distant by CAP cancer protocols | |
| 33736-0 | Surgical margin tumor involvement.circumferential by CAP cancer protocols | |
| 33737-8 | Distance of tumor from closest margin | |
| 33738-6 | Closest margin | |
| 33739-4 | Lymphatic.small vessel.invasion [Identifier] in Specimen by CAP cancer protocols | |
| 33740-2 | Venous.large vessel.invasion [Identifier] in Specimen by CAP cancer protocols | |
| 33741-0 | Deprecated Perineural invasion [Type] in Specimen by CAP cancer protocols | |
| 33742-8 | Tumor border configuration [Type] in Specimen | |
| 33743-6 | Deprecated Intratumoral /Peritumoral lymphocytic response by CAP cancer protocols | |
| 33744-4 | Deprecated Additional pathological findings by CAP cancer protocols | |
| 33745-1 | Polyps in Specimen Narrative | |
| 33746-9 | Pathologic findings | |
| 33747-7 | Number of fragmented pieces | |
| 33748-5 | Distance from anal verge | |
| 33749-3 | Deprecated Distance from anal verge unknown by CAP cancer protocols | |
| 33750-1 | Deprecated Margins cannot be assessed by CAP cancer protocols | |
| 33751-9 | Surgical margin tumor involvement.lateral in Specimen by CAP cancer protocols | |
| 33752-7 | Distance of carcinoma from closest lateral margin [Length] in Specimen | |
| 33753-5 | Deprecated Lateral margin location by CAP cancer protocols | |
| 33754-3 | Surgical margin tumor involvement.deep in Specimen by CAP cancer protocols Narrative | |
| 33755-0 | Distance of carcinoma from deep margin [Length] in Specimen | |
| 33756-8 | Polyp size greatest dimension | |
| 33757-6 | Polyp size additional dimensions | |
| 33758-4 | Polyp stalk length by CAP cancer protocols | |
| 33759-2 | Deepest extent of invasion [Type] in Specimen | |
| 33760-0 | Surgical margin tumor involvement.mucosal in Specimen by CAP cancer protocols | |
| 33761-8 | Venous + Lymphatic small vessel invasion in Specimen by CAP cancer protocols | |
| 33773-3 | Karyotype [Identifier] in Amniotic fluid Nominal | |
| 33774-1 | Karyotype [Identifier] in Chorionic villus sample Nominal | |
| 33779-0 | IgG+IgM+IgA heavy chain Ag [Presence] in Tissue by Immune stain | |
| 33893-9 | Karyotype [Identifier] in Bone marrow Nominal | |
| 33981-2 | TBP gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 34193-3 | SMPD1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 34203-0 | SCA12 gene CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 34489-5 | TOR1A gene deletion [Presence] in Blood or Tissue by Molecular genetics method | |
| 34490-3 | MT-TK gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34491-1 | PRF1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34492-9 | NOTCH3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34493-7 | PRF1 gene targeted mutation analysis in Amniotic fluid by Molecular genetics method | |
| 34494-5 | SCA10 gene ATTCT repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 34495-2 | TOR1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34496-0 | Chromosome 7 uniparental disomy [Presence] in Blood or Tissue by Cytogenetics | |
| 34497-8 | SPINK1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34498-6 | ACADS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34499-4 | GPC3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34500-9 | SHOX gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34501-7 | HADHA gene c.1528G>C [Identifier] in Blood or Tissue by Molecular genetics method Narrative | |
| 34502-5 | VHL gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34503-3 | Chromosome 15 uniparental disomy [Presence] in Blood or Tissue by Cytogenetics | |
| 34504-1 | GJB6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34505-8 | NPDC gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34506-6 | EGR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34507-4 | PRX gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34508-2 | PANK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34509-0 | UGT1A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34510-8 | SDHB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34511-6 | SDHD gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34512-4 | NPHS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34513-2 | NPHS1 gene targeted mutation analysis in Body fluid by Molecular genetics method | |
| 34514-0 | SLC22A18 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34515-7 | GLA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34516-5 | SPAST gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34517-3 | CATCH22 syndrome gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34518-1 | SMPD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34519-9 | HFE gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34600-7 | HC gene rearrangements [Presence] in Cerebral spinal fluid by Molecular genetics method | |
| 34647-8 | PPT1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34649-4 | MERRF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34650-2 | TSC gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34651-0 | CYP21A2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34653-6 | GJB1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34654-4 | MPZ gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34656-9 | KEL gene targeted mutation analysis in Amniotic fluid or Chorionic villus sample by Molecular genetics method | |
| 34658-5 | MCOLN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 34659-3 | ATP7A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34675-9 | Mitochondria Genes targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34676-7 | Deprecated SMN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Narrative | |
| 34678-3 | MT-RNR1 gene m.1555A>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 34679-1 | PTPN11 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34681-7 | Biopsy [Interpretation] in Muscle Narrative | |
| 34698-1 | CSTB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34706-2 | CFTR gene c.3199del6 [Presence] in Blood or Tissue by Molecular genetics method | |
| 34718-7 | CFTR gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal | |
| 34722-9 | EGR2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 34727-8 | DMPK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 34729-4 | CFTR gene.p.Arg117His+5T variant [Presence] in Blood or Tissue by Molecular genetics method | |
| 34730-2 | Chromosome breakage [Interpretation] in Specimen | |
| 34731-0 | APOE gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method | |
| 34732-8 | APOE gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method | |
| 34733-6 | Deprecated APOE gene allele 3 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 34734-4 | Deprecated APOE gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 34735-1 | Deprecated APOE gene allele 4 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 34739-3 | NR0B1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34740-1 | NEFL gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 34741-9 | RHCE gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal | |
| 34742-7 | Chromosome breakage [Units/volume] in Blood by Diepoxybutane | |
| 34972-0 | DNA index 3 in Specimen by Flow cytometry (FC) | |
| 34973-8 | DNA index 2 in Serum or Plasma by Flow cytometry (FC) | |
| 34974-6 | DNA index 3 in Serum or Plasma by Flow cytometry (FC) | |
| 34975-3 | DNA index in Serum or Plasma by Flow cytometry (FC) | |
| 34976-1 | DNA index 2 in Specimen by Flow cytometry (FC) | |
| 35122-1 | MTM1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35123-9 | Chromosome 14 uniparental disomy [Presence] in Blood or Tissue by Cytogenetics | |
| 35129-6 | Karyotype [Identifier] in Specimen Nominal | |
| 35132-0 | MELAS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35137-9 | MECP2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35138-7 | MEFV gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 35265-8 | Pathology report addendum in Specimen Narrative | |
| 35266-6 | Gleason score in Specimen Qualitative | |
| 35267-4 | Age at pathology Dx | |
| 35288-0 | MEN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35290-6 | RPS6KA3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35291-4 | UBE3A gene mutations found [Identifier] in Blood by Molecular genetics method Nominal | |
| 35292-2 | Chromosome 11 uniparental disomy [Presence] in Blood or Tissue by Cytogenetics | |
| 35293-0 | TYR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35294-8 | PYGM gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35295-5 | BTK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35296-3 | PAX3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35297-1 | LMNA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35298-9 | FXN gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35299-7 | PSEN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35300-3 | GJB2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35302-9 | HYAL1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35304-5 | CLA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35306-0 | TTR gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35307-8 | TTR gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35324-3 | PMP22 gene allele 1 [Presence] in Blood or Tissue by Molecular genetics method | |
| 35325-0 | PMP22 gene allele 2 [Presence] in Blood or Tissue by Molecular genetics method | |
| 35340-9 | ASPA gene p.Tyr231Ter [Presence] in Blood or Tissue by Molecular genetics method | |
| 35341-7 | ASPA gene p.Ala305Glu [Presence] in Blood or Tissue by Molecular genetics method | |
| 35351-6 | Myotonic dystrophy gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35353-2 | FSHD gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35354-0 | COL1A1+COL1A2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35355-7 | PABPN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35356-5 | TWIST1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35357-3 | PEO gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35358-1 | LHON syndrome gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35359-9 | AR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35366-4 | SCA2 gene allele 2 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35367-2 | SCA2 gene allele 1 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35368-0 | SCA1 gene allele 2 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35369-8 | SCA1 gene allele 1 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35370-6 | Deprecated GBA gene.g.S84GG [Presence] in Blood or Tissue by Molecular genetics method | |
| 35371-4 | Deprecated GBA gene.g.N370S [Presence] in Blood or Tissue by Molecular genetics method | |
| 35372-2 | GBA gene p.Leu444Pro [Presence] in Blood or Tissue by Molecular genetics method | |
| 35374-8 | DMPK gene allele 2 CTG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35375-5 | DMPK gene allele 1 CTG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35376-3 | MJD gene allele 2 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35377-1 | MJD gene allele 1 CAG repeats [Presence] in Blood or Tissue by Molecular genetics method | |
| 35378-9 | HNPCC genes mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 35379-7 | HNPCC genes mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35380-5 | HEXA gene c.IVS7+1G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 35381-3 | HEXA gene c.IVS12+1G>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 35382-1 | HEXA gene p.Gly269Ser [Presence] in Blood or Tissue by Molecular genetics method | |
| 35453-0 | ARSA gene PD allele [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35454-8 | MLL gene rearrangements in Blood or Tissue by Molecular genetics method | |
| 35455-5 | X chromosome inactivation [Identifier] in Blood or Tissue Narrative | |
| 35456-3 | Y chromosome deletion [Identifier] in Blood or Tissue Nominal | |
| 35457-1 | Maternal cell contamination [Identifier] in Amniotic fluid Nominal | |
| 35461-3 | ELN gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35462-1 | SMN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35463-9 | Telomere analysis [Identifier] in Blood or Tissue Nominal | |
| 35464-7 | CMT axonal gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35465-4 | RHD gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal | |
| 35466-2 | AS+PWS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35470-4 | Mitochondria Genes deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35472-0 | HEXA gene c.1277insTATC [Presence] in Blood or Tissue by Molecular genetics method | |
| 35473-8 | HEXA gene 7.6kb deletion [Presence] in Blood or Tissue by Molecular genetics method | |
| 35474-6 | Gene XXX targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35506-5 | Chronic lymphocytic leukemia gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35645-1 | NSD1 gene deletion [Presence] in Blood or Tissue by Molecular genetics method | |
| 35686-5 | GBA gene c.1226A>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 35687-3 | GBA gene c.1297G>T [Presence] in Blood or Tissue by Molecular genetics method | |
| 35688-1 | GBA gene c.1448T>G and 1448T>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 35689-9 | GBA gene c.84insG [Presence] in Blood or Tissue by Molecular genetics method | |
| 35690-7 | GBA gene c.IVS2(+1)G>A and IVS2(+1)G>T [Presence] in Blood or Tissue by Molecular genetics method | |
| 35692-3 | G0+G1 phase cells/100 cells in Specimen by Flow cytometry (FC) | |
| 35693-1 | GBA gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35737-6 | Microscopic observation [Identifier] in Amniotic fluid by Nile blue prusside | |
| 35742-6 | SH2D1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35744-2 | TP73L gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 35749-1 | DMPK phenotype [Type] in Blood or Tissue by Molecular genetics method | |
| 35750-9 | DMPK gene allele 2 CTG repeats [Entitic number] in Blood or Tissue by Molecular genetics method | |
| 35751-7 | DMPK gene allele 1 CTG repeats [Entitic number] in Blood or Tissue by Molecular genetics method | |
| 35753-3 | Mitochondrial myopathy gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 35864-8 | Chronic lymphocytic leukemia gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 36907-4 | Chromosome 8 trisomy [Percentile] by Cytogenetics | |
| 36908-2 | Gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 36909-0 | G0+G1 phase cells/100 cells in Blood | |
| 36910-8 | S-phase cells/100 cells in Blood | |
| 36911-6 | SCA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 36912-4 | CATCH22 syndrome gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 36913-2 | FMR1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 36914-0 | FMR1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 36915-7 | AS+PWS gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 36917-3 | Chromosome uniparental disomy [Identifier] in Blood or Tissue by Molecular genetics method Narrative | |
| 36918-1 | ALDOB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 36919-9 | ELN gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 36920-7 | PROP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 36922-3 | TPMT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 36925-6 | MEFV gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38179-8 | Peripheral neuropathy gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38380-2 | HFE gene.p.Ser65Cys [Presence] in Blood or Tissue by Molecular genetics method | |
| 38404-0 | CFTR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38405-7 | MT-ATP6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38406-5 | PABPN1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38407-3 | PAX3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38408-1 | PEO gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38409-9 | SERPINA1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38411-5 | TOR1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38412-3 | FGFR2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38413-1 | FGFR3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38415-6 | MTHFR gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38447-9 | CFTR gene c.711+1G>T [Presence] in Blood or Tissue by Molecular genetics method | |
| 38448-7 | CFTR gene p.Ala455Glu [Presence] in Blood or Tissue by Molecular genetics method | |
| 38449-5 | CFTR gene c.1078delT [Presence] in Blood or Tissue by Molecular genetics method | |
| 38450-3 | CFTR gene c.2184delA [Presence] in Blood or Tissue by Molecular genetics method | |
| 38451-1 | CFTR gene c.2789+5G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 38452-9 | CFTR gene c.3120+1G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 38453-7 | CFTR gene c.3659delC [Presence] in Blood or Tissue by Molecular genetics method | |
| 38454-5 | CFTR gene p.Gly85Glu [Presence] in Blood or Tissue by Molecular genetics method | |
| 38455-2 | CFTR gene c.621+1G>T [Presence] in Blood or Tissue by Molecular genetics method | |
| 38456-0 | CFTR gene c.3849+10kbC>T [Presence] in Blood or Tissue by Molecular genetics method | |
| 38471-9 | Karyotype [Identifier] in Urine Nominal | |
| 38529-4 | CMTX2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38530-2 | BRCA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38531-0 | BRCA2 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 38532-8 | SPG3A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38533-6 | TCOF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38534-4 | COL5A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38535-1 | LAMA2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38536-9 | MLH1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38537-7 | ARX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38550-0 | MSH2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38891-8 | ABCC8 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38895-9 | ELA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38896-7 | F9 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38900-7 | HEXA gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 38902-3 | LITAF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38904-9 | MFN2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38905-6 | MLL gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal | |
| 38906-4 | MSH6 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38907-2 | NIPA1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38909-8 | PTCH gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38911-4 | SDHC gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38913-0 | TBX5 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38914-8 | RS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38918-9 | ABCC8 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38919-7 | LITAF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38920-5 | MFN2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38921-3 | MSH6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38922-1 | PTCH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38923-9 | SDHC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38924-7 | TBX5 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38925-4 | RS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38927-0 | TRPS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38928-8 | FAH gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 38929-6 | FAH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38930-4 | EXT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 38931-2 | TRPS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 39004-7 | Epidermal growth factor receptor Ag [Presence] in Tissue | |
| 39080-7 | EPM2A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 39086-4 | Microscopic observation [Identifier] in Vaginal fluid by Cyto stain.thin prep | |
| 39089-8 | PLP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 39575-6 | Fungus.microscopic observation [Identifier] in Specimen by Periodic acid-Schiff stain | |
| 40341-0 | MT-ATP6 gene m.8993T>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 40342-8 | MT-TL1 gene m.3271T>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 40343-6 | MT-TK gene m.8296A>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 40344-4 | Deprecated MTTL1 gene c.A3243G [Presence] in Blood or Tissue by Molecular genetics method | |
| 40345-1 | MT-TK gene m.8356T>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 40346-9 | MT-CO1 gene m.7445A>G [Presence] in Blood or Tissue by Molecular genetics method | |
| 40347-7 | MT-TL1 gene m.3256C>T [Presence] in Blood or Tissue by Molecular genetics method | |
| 40348-5 | MT-TL1 gene m.3252T>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 40349-3 | MT-TK gene m.8363G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 40350-1 | MT-TL1 gene m.3291T>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 40351-9 | MT-ND4 gene m.11778G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 40352-7 | MT-ND5 gene m.13513G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 40353-5 | MT-ND6 gene m.14484T>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 40354-3 | MT-ND1 gene m.3460G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 40425-1 | CYP2D6 gene allele [Genotype] in Blood or Tissue by Molecular genetics method Nominal | |
| 40426-9 | FGD1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40427-7 | FGF23 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40428-5 | NIPBL gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40429-3 | NOD2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40430-1 | TH gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40434-3 | APTX gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40461-6 | GJB1 gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40462-4 | GJB1 gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40463-2 | TNFRSF1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40468-1 | SLC26A4 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40471-5 | FBN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40475-6 | WFS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40476-4 | PARK2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40477-2 | L1CAM gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40478-0 | MAPT gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40556-3 | Estrogen receptor Ag [Presence] in Tissue by Immune stain | |
| 40557-1 | Progesterone receptor Ag [Presence] in Tissue by Immune stain | |
| 40558-9 | Cytokeratin 20 Ag [Presence] in Tissue by Immune stain | |
| 40559-7 | Cytokeratin 7 Ag [Presence] in Tissue by Immune stain | |
| 40560-5 | Cytokeratin AE1/AE3 Ag [Presence] in Tissue by Immune stain | |
| 40561-3 | Cytokeratin Cam5.2 Ag [Presence] in Tissue by Immune stain | |
| 40562-1 | Actin muscle specific Ag [Presence] in Tissue by Immune stain | |
| 40563-9 | Actin smooth muscle Ag [Presence] in Tissue by Immune stain | |
| 40564-7 | Thyroid transcription factor 1 Ag [Presence] in Tissue by Immune stain | |
| 40693-4 | RET gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40704-9 | Maternal cell contamination [Identifier] in Blood Nominal | |
| 40833-6 | SOD1 gene allele 1 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40859-1 | SOD1 gene allele 2 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40871-6 | CNBP gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40872-4 | CBS gene c.833T>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 40873-2 | CBS gene c.919G>A [Presence] in Blood or Tissue by Molecular genetics method | |
| 40876-5 | AMPD1 gene p.Gln12Ter and p.Pro48Leu [Presence] in Blood or Tissue by Molecular genetics method | |
| 40877-3 | CPT2 gene p.Pro50His+Ser113Leu [Presence] in Blood or Tissue by Molecular genetics method | |
| 40878-1 | CPT2 gene p.Gln413FSer+Gly549Asp [Presence] in Blood or Tissue by Molecular genetics method | |
| 40930-0 | PYGM gene p.Arg50Ter+Gly205Ser [Presence] in Blood or Tissue by Molecular genetics method | |
| 40959-9 | MUTYH gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40961-5 | SFTPB gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40962-3 | SFTPC gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 40970-6 | VWF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40994-6 | CPEO syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 40995-3 | Mitochondria Genes mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41042-3 | WFS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41043-1 | VHL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41044-9 | UGT1A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41045-6 | TYR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41046-4 | TWIST1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41047-2 | TSC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41048-0 | TPMT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41049-8 | TNFRSF1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41050-6 | TH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41051-4 | SPINK1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41052-2 | SPAST gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41053-0 | SMN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41054-8 | Deprecated SMA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41055-5 | SLC26A4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41056-3 | SLC22A18 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41057-1 | SHOX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41058-9 | SH2D1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41059-7 | SFTPC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41060-5 | SFTPB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41061-3 | SDHD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41062-1 | SDHB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41063-9 | RPS6KA3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41064-7 | PYGM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41065-4 | PTPN11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41066-2 | PRX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41067-0 | PRF1 gene mutations found [Identifier] in Amniotic fluid by Molecular genetics method Nominal | |
| 41068-8 | PRF1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41069-6 | PPT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41070-4 | Peripheral neuropathy gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41071-2 | PARK2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41072-0 | PANK2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41073-8 | NR0B1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41074-6 | NPHS1 gene mutations found [Identifier] in Body fluid by Molecular genetics method Nominal | |
| 41075-3 | NPHS1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41076-1 | NPDC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41077-9 | NOTCH3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41078-7 | NIPBL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41079-5 | NEFL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41080-3 | Myotonic dystrophy gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41081-1 | MUTYH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41082-9 | MT-TK gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41083-7 | MTM1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41084-5 | MSH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41085-2 | MPZ gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41086-0 | MLH1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41087-8 | Mitochondrial myopathy gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41088-6 | MERRF gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41089-4 | MEN1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41090-2 | MELAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41091-0 | MEFV gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41092-8 | MAPT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41093-6 | LHON syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41094-4 | LAMA2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41095-1 | L1CAM gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41096-9 | KEL gene allele [Genotype] in Amniotic fluid by Molecular genetics method Nominal | |
| 41097-7 | HADHA gene c.1528G>C [Presence] in Blood or Tissue by Molecular genetics method | |
| 41098-5 | GPC3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41099-3 | GLA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41100-9 | GJB6 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41101-7 | GJB2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41102-5 | GJB1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41103-3 | Gene XXX mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41104-1 | GBA gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41105-8 | FSHD gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41106-6 | FXN gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41107-4 | FMR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41108-2 | FGF23 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41109-0 | FGD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41110-8 | CSTB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41111-6 | COL5A1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41112-4 | CMT axonal gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41113-2 | Chronic lymphocytic leukemia gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41114-0 | CATCH22 syndrome gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41115-7 | NOD2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41116-5 | ATP7A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41117-3 | AS+PWS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41118-1 | AR gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41119-9 | APTX gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41120-7 | ALDOB gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41121-5 | ACADS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41209-8 | VWF gene.p.Arg854Gln [Presence] in Blood or Tissue by Molecular genetics method | |
| 41210-6 | VWF gene p.Arg816Trp [Presence] in Blood or Tissue by Molecular genetics method | |
| 41265-0 | Deprecated Width of Stone | |
| 41268-4 | VWF gene.p.Thr791Met [Presence] in Blood by Molecular genetics method | |
| 41294-0 | S-phase cells [Presence] in Specimen | |
| 41743-6 | BBS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41748-5 | CAPN3 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41749-3 | CHIC2 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41750-1 | COCH gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 41751-9 | COL3A1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41753-5 | FKRP gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41758-4 | GNAS1 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41764-2 | SBDS gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41765-9 | SCN1A gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41768-3 | VWF gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 41872-3 | PDCD10 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42179-2 | PLP1 gene duplication [Presence] in Blood or Tissue by Molecular genetics method | |
| 42192-5 | Nidus [Presence] in Stone | |
| 42209-7 | Microscopic observation [Identifier] in Cerebral spinal fluid by Cyto stain | |
| 42210-5 | Microscopic observation [Identifier] in Bronchial specimen by Cyto stain | |
| 42240-2 | CHD7 gene targeted mutation analysis in Blood or Tissue by Molecular genetics method | |
| 42315-2 | APOE gene alleles e2 and e3 and e4 [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42316-0 | RHD gene allele [Genotype] in Amniotic fluid by Molecular genetics method Nominal | |
| 42318-6 | GALT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42321-0 | HTT gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42325-1 | RHD and RHCE gene alleles [Genotype] in Blood or Tissue by Molecular genetics method Nominal | |
| 42514-0 | Inhibin Ag [Presence] in Tissue by Immune stain | |
| 42634-6 | 1p and 19q chromosome deletion [Presence] in Fixed tissue by Molecular genetics method | |
| 42635-3 | Chromosome 12p tetrasomy [Presence] in Fixed tissue by Molecular genetics method | |
| 42660-1 | Alpha 2 laminin [Presence] in Tissue by Immune stain | |
| 42712-0 | AML/MDS gene 7q31 deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42713-8 | AML/MDS gene CEP 8 trisomy [Presence] in Blood or Tissue by Molecular genetics method | |
| 42714-6 | t(9;22)(q34.1;q11)(ABL1,BCR) b2a2+b3a2 fusion transcript [Presence] in Blood or Tissue by Molecular genetics method | |
| 42715-3 | Del(5)(q12-35) deletion [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42777-3 | AKT1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42778-1 | BRCA1 Ag [Presence] in Tissue by Immune stain | |
| 42779-9 | BRCA2 Ag [Presence] in Tissue by Immune stain | |
| 42780-7 | CCND1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42782-3 | Epidermal growth factor receptor.phosphorylated Ag [Presence] in Tissue by Immune stain | |
| 42783-1 | ERBB2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42785-6 | FGFR1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42786-4 | HER3 Ag [Presence] in Tissue by Immune stain | |
| 42787-2 | HER4 Ag [Presence] in Tissue by Immune stain | |
| 42788-0 | Insulin-like growth factor-I receptor Ag [Presence] in Tissue by Immune stain | |
| 42789-8 | Mitogen-Activated protein kinase 14 Ag [Presence] in Tissue by Immune stain | |
| 42790-6 | Deprecated Mitogen-Activated protein kinase 14 Ag [Presence] in Tissue by Immune stain | |
| 42791-4 | Mitogen-Activated protein kinase 3 Ag [Presence] in Tissue by Immune stain | |
| 42792-2 | Mitogen-Activated protein kinase 8 Ag [Presence] in Tissue by Immune stain | |
| 42793-0 | Mitogen-Activated protein kinase 9 Ag [Presence] in Tissue by Immune stain | |
| 42794-8 | MYC gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal | |
| 42795-5 | Retinoblastoma protein [Presence] in Tissue by Immune stain | |
| 42801-1 | Deprecated Histology grade in Cancer specimen by Nottingham combined | |
| 42914-2 | HER2 [Mass/volume] in Serum by Immunoassay | |
| 42938-1 | CFTR gene allele 1 [Presence] in Blood or Tissue by Molecular genetics method | |
| 42939-9 | CFTR gene allele 2 [Presence] in Blood or Tissue by Molecular genetics method | |
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