Genomic Unity® Exome Analysis
Test Description
Test Code – CP002
The diagnostic odyssey for unexplained genetic disorders is a frustrating and costly process for patients and their families. Potentially unnecessary delays identifying the molecular cause of a person’s symptoms may result in missed opportunities for changes in treatment and limit inheritance information for family members.
The exome makes up approximately 1%-2% of the human genome; however, 85% of disease causing variants can be found in the exome. Genomic Unity® Exome Analysis takes full advantage of the Genomic Unity® single platform method, providing a full analysis driven by a person’s clinical features of small sequence changes, genome-wide structural variants and short tandem repeats expansions in relevant genes.
Include family member samples for a duo or trio. Order directly, or reflex up from one of the available targeted Analyses.
When to order
Order this test when clinical symptoms can be caused by a wide variety of genes or genetic mechanisms, are suggestive of multiple conditions, are atypical for a certain condition, do not have specific diagnostic genetic test available, or have had previous non-diagnostic genetic testing.
Included Analyses
- Whole exome sequence analysis (single nucleotide variants, deletions, insertions, and characterized intronic and regulatory variants)
- Genome-wide structural variant analysis (copy number variants, duplications/deletions, regions of homozygosity, uniparental disomy, mobile element insertions, inversions, and aneuploidy)
- Short tandem repeat (STR) analysis for adult-onset movement disorder, with or without cognitive involvement: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PABPN1, PPP2R2B, TBP
- STR analysis for early-onset intellectual disability disorders: AFF2, DIP2B, FMR1
- STR analysis for other disorders: PHOX2B, TCF4
Optionally includes:
- Reflex to Genomic Unity® Whole Genome Analysis
Test Performance
Note: The false negative rate hasn’t been determined for repeat expansions for AFF2, ATXN10, CNBP, CSTB, DIP2B,JPH3, NOP56, NOTCH2NLC, PHOX2B, TBP and TCF4.
CPT Codes
81415, 81416
The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Accepted Specimens
Blood
5ml
Saliva
2ml
gDNA
5μg
Turnaround Time
A report will be issued within 10-12 weeks from receipt of required samples.
