| Code | Display | Definition |
| alt-splc | Alternative splicing detection | Identification of multiple different processed mRNA transcripts from the same DNA template |
| chromatin | Chromatin conformation | Analysis of the spacial organization of chromatin within a cell |
| cnv | CNV detection | Detection of a change in the number of copies of a defined region of genomic DNA sequence resulting in structural variation when compared to the reference sequence |
| epi-alt-hist | Epigenetic Alterations - histone modifications | Detection of biochemical modifications covalently bound to the N-terminal tail of a histone protein. These modifications may alter chromatin compaction and gene expression |
| epi-alt-dna | Epigenetic Alterations -DNA methylation | Detection of the presence of an additional methyl group on a DNA nucleobase, which may alter gene transcription |
| fam-var-segr | Familial variant segregation | Determining if a variant identified in an individual is present in other family members |
| func-var | Functional variation detection | Detection of sequence variants which may alter gene expression or gene product function when compared to the reference sequence |
| gene-expression | Gene expression profiling | Measurement and characterization of activity from all gene products |
| post-trans-mod | Post-translational Modification Identification | Detection of biochemical modifications covalently bound to the amino acid monomers of a processed protein |
| snp | SNP Detection | Determination of which nucleotide is base present at a known variable location of the genomic sequence |
| str | STR count | Quantification of the number of sequential microsatellite units in a repetitive sequence region |
| struc-var | Structural variation detection | Detection of deletions, insertions, or rearrangements of DNA segments compared to the reference sequence |