Genomic Unity® Whole Genome Analysis

Test Description

Test Code – CP001

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.

Genomic Unity® Whole Genome Analysis takes full advantage of the Genomic Unity® single platform method, providing a full analysis driven by a person’s clinical features of all relevant genes and variant types.

Include family member samples for a duo or trio. Order directly, or reflex up from one of the available targeted analyses.

When to order

Genomic Unity® Whole Genome 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. Whole Genome 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, intronic, regulatory, and intergenic variants).
  • Genome-wide structural variant analysis (copy number variants, duplications/deletions, regions of homozygosity, uniparental disomy, mobile element insertions, inversions, and aneuploidy).
  • Mitochondrial genome sequence analysis with heteroplasmy (≥5%) and large deletion analysis.
  • Short tandem repeat (STR) analysis of the AFF2, AR, ARX, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, C9ORF72, CACNA1A, CNBP, CSTB, DIP2B, DMPK, FGF14, FMR1, FOXL2, FXN, GIPC1, GLS, HTT, JPH3, LRP12, NOP56, NOTCH2NLC, PABPN1, PHOX2B, PPP2R2B, RFC1, SOX3, TBP, TCF4, VWA1, ZFHX3, and ZIC2 genes. (Learn more)

Optionally includes:

Test Performance

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

Note: The false negative rate for repeat expansions has not been determined.

CPT Codes

0212U, 0213U (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







Turnaround 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