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, or reflex up from one of the available targeted analyses.

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 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

  • 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

Optionally includes:

  • Huntington-related STR analysis (requires special consent): HTT, JPH3

Test Performance

 %
Sensitivity for SNVs
 %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

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

  • 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.

Accepted Specimens

Variantyx Blood

Blood

5ml

Variantyx Saliva

Saliva

2ml

Variantyx DNA

gDNA

5μg

Turn Around Time

A report will be issued within 10-12 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

Learn More