Genomic Unity® Exome Plus Analysis
Test Description
Test Code – CP010
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, reflex up from one of the available targeted analyses, or reflex up to Genomic Unity® Whole Genome Analysis.
When to order
Genomic Unity® Exome Plus Analysis is ideal for people with clinical symptoms that can be caused by a 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.
The Genomic Unity® Exome Plus Analysis can be ordered as a first-line test or when previous testing was non-diagnostic. When ordered as a first-line test, the diagnostic testing odyssey can be shortened compared to a traditional step-wise approach, and prior authorization may be more likely to be approved.
Included Analyses
- Genome-wide sequence analysis (single nucleotide variants, deletions/insertions, 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)
- 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, HTT, JPH3, NOP56, NOTCH2NLC, PABPN1, PPP2R2B, TBP
- Early-onset intellectual disability disorder STR analysis: AFF2, DIP2B, FMR1
- Other disorders STR analysis: PHOX2B, TCF4
Optionally includes:
- ACMG Secondary Findings
- Reflex to Genomic Unity® Whole Genome Analysis
- Genomic Unity® Pharmacogenomics Analysis for general pharmacogenomics.
Test Performance
Short tandem repeats:
Due to the variable nature of repetitive sequences and sequence-specific differences in detection and repeat evaluation, orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.
CPT Codes
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.
Accepted Specimens
Blood
5ml
Saliva
2ml
gDNA
5μg
Turnaround Time
A report will be issued within 10-12 weeks from receipt of required samples.
