Genomic Unity® Exome Plus Analysis

CP010

Genomic Unity® Exome Plus Analysis is a diagnostic test designed to identify genetic variants that correlate with the patient’s phenotype.

Test Description

Genomic Unity® Exome Plus Analysis is a comprehensive test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. It analyzes patient DNA jointly with parental DNA when family samples are included.

Genomic Unity® Exome Plus Analysis provides a single, unified clinical report that replaces a battery of tests including: whole exome sequencing (WES), chromosomal microarray (CMA), multiplex ligation dependent probe amplification (MLPA), and single gene or targeted gene panel testing, as well as PCR and southern blot tests for short tandem repeat expansions.

When to Order

Order this test when:

  • Clinical symptoms may be caused by a variety of genes or genetic mechanisms, are suggestive of multiple conditions, or are atypical for a certain condition.
  • A specific diagnostic genetic test is not available.
  • The patient has had previous non-diagnostic genetic testing.

Included Analyses

  • Genome-wide sequence analysis including: single nucleotide variants, deletions, insertions, characterized intronic and regulatory variants.
  • Genome-wide structural variant analysis including: copy number variants (CNVs), duplications/deletions, regions of homozygosity (ROH), uniparental disomy (UPD)*, mobile element insertions, inversions, and aneuploidy.
  • Mitochondrial genome analysis including: single nucleotide variants, deletions and insertions with heteroplasmy (≥5%), and large deletions.
  • 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).

*Available for trio only.

Optionally includes:

Turnaround Time

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

Sample Types

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.

Methods and Limitations

Genomic Unity® Exome Plus Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
>99.9% sensitivity
>99.9% specificity
>99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Mitochondrial variants:
Heteroplasmy is not reported for large deletions and duplications are not detected. The false negative rate for mitochondrial large deletions has not been determined.

Short tandem repeats:
The false negative rate for repeat expansions has not been determined.