Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis

Test Description

Test Code – CP004

The Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis is a whole genome sequence based test designed to identify chromosomal abnormalities that correlate with the patient’s clinical symptoms. The genetic changes identified in the test include copy number variants, duplications/deletions, regions of homozygosity, inversions, mobile element insertions, and aneuploidy.

Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis is a comparable test to a chromosomal microarray (CMA). CMA has been recommended by the American Academy of Neurology (AAN), the American College of Medical Genetics (ACMG), the Child Neurology Society (CNS), the American Academy of Pediatrics (AAP), and the International Standard Cytogenomic Array (ISCA) Consortium.

When to order

Consider ordering Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis when you would typically be ordering a CMA.

Such analyses are considered particularly beneficial for individuals with:

  • Multiple congenital anomalies
  • Global developmental delays/intellectual disability with or without dysmorphic features
  • Autism spectrum disorders
  • Suspected chromosomal imbalances

Included analyses

  • Genome-wide copy number changes, deletions, duplications, inversions, regions of homozygosity, and mobile element insertion

Test Performance

 %
Clinical sensitivity for structural variants

CPT Codes

81229

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 4 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

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