Genomic Unity® Exome Plus Analysis
The diagnostic odyssey for unexplained genetic disorders is a frustrating and costly process for patients and their families. Unnecessary delays in identifying the molecular cause of the symptoms result in potentially missed opportunities for changes in treatment for the patient as well as missed screening opportunities for family members.
Genomic Unity® Exome Plus Analysis takes full advantage of the Genomic Unity® single platform method, providing a full, phenotypically driven analysis of all relevant genes and variant types.
Order directly, or reflex up from one of the available targeted analyses.
Traditional practice advocates ordering this test when the patient exhibits phenotypes with significant genetic heterogeneity that are suggestive of multiple conditions or are otherwise unclear or atypical. Or when a specific genetic test is not available and/or prior genetic testing has been unsuccessful.
As conventional wisdom is evolving, this test can alternatively be ordered as the first line of diagnosis when a genetic etiology is suspected.
In particular, consider ordering before single gene, multi-gene panel and/or exome testing has been performed for the highest likelihood of prior authorization approval.
- Exome sequence analysis, including characterized intronic and regulatory variants
- Genome wide copy number changes, deletions, duplications, inversions, regions of homozygosity and mobile element insertions
- Mitochondrial genome analysis with heteroplasmy (≥5%)
- Mitochondrial genome large deletions analysis
- Adult-onset movement disorder (with or without cognitive involvement) STR analysis: AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DMPK, FMR1, FXN, NOP56, NOTCH2NLC, PABPN1 PPP2R2B, TBP
- Early-onset intellectual disability disorder STR analysis: AFF2, DIP2B, FMR1
- Other disorders STR analysis: PHOX2B, TCF4
- Huntington-related STR analysis (requires special consent): HTT, JPH3
SNVs and Indels up to 50bp
99.2% positive predictive value
96% clinical sensitivity
Reported when heteroplasmy is ≥5%
Short tandem repeats:
Full mutation tandem repeats, and in some cases intermediate and/or premutation repeats, are reported with the number of repeats. All reported tandem repeat expansions are confirmed by an orthogonal technology.
- 81415, 81416 (xN), 81229, 81460, 81465
- 0214U, 0215U (xN)
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.
Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg
Turn around time is 10-12 weeks from sample receipt.