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, mobile element insertions, and aneuploidy
Test Performance
CPT Codes
81349
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 4 weeks from receipt of required samples.
