Genomic Unity® 2.0

Test Description

Genomic Unity® 2.0 is the only whole genome based diagnostic test that combines short and long-read genome sequencing technologies in one clinical report. The test identifies genetic variants that correlate with the patient’s phenotype.

Genomic Unity® 2.0 is the most comprehensive genomic test available today. Its single, unified clinical report replaces a battery of tests including: whole genome sequencing (WGS), whole exome sequencing (WES), bisulfite (DNA methylation) sequencing, 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.

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

When to Order

Genomic Unity® 2.0 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. Genomic Unity® 2.0 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 including: single nucleotide variants, deletions, insertions, intronic, regulatory, and intergenic 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 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, BEAN1, C9ORF72, CACNA1A, CNBP, CSTB, DIP2B, DMPK, FGF14, FMR1, FOXL2, FXN, GIPC1, GLS, HOXA13, HTT, JPH3, LRP12, NOP56, NOTCH2NLC, PABPN1, PHOX2B, PPP2R2B, PRDM12, PRNP, RFC1, RILPL1, RUNX2, SAMD12, SOX3, TBP, TCF4, VWA1, ZFHX3, and ZIC2 genes. (Learn more).
  • Methylation patterns associated with Angelman, Prader-Willi and Fragile X syndromes.
  • Variant phasing.
  • Intrinsic confirmatory validation.

Optionally includes:

Turnaround Time

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

Sample Types

CPT Codes

0212U, 0213U (xN), 81479

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® 2.0  uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software. The genome is sequenced twice: once with short read sequencing and once with long read sequencing. 

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

Structural variants:
96% clinical sensitivity

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