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 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 other disorders: PHOX2B, TCF4

Optionally includes:

  • ACMG Secondary Findings

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

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

Blood

5ml

Saliva

2ml

gDNA

5μg

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.

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