Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis
Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis is a diagnostic test designed to identify chromosomal abnormalities that correlate with the patient’s clinical symptoms.
- Test Description
- When to Order
- Included Analyses
- Turnaround Time
- Sample Types
- CPT Codes
- Methods and Limitations
Test Description
Genome-Wide Copy Number Variant Analysis is a comprehensive test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This test focuses on analysis of chromosomal abnormalities.
Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis provides a single clinical report that replaces chromosomal microarray (CMA) and multiplex ligation dependent probe amplification (MLPA) testing of the entire genome.
When to Order
Order this test when a chromosomal abnormality is suspected. Such analyses are considered particularly applicable 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 structural variant analysis including: copy number variants (CNVs), duplications/deletions, regions of homozygosity (ROH), mobile element insertions, inversions, and aneuploidy.
Optionally includes:
- Reflex to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis, or Genomic Unity® Whole Genome Analysis.
- Genomic Unity® Pharmacogenomics Analysis.
Turnaround Time
A report will be issued within 4 weeks from receipt of required samples.
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.
Methods and Limitations
Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.
Structural variants:
96% clinical sensitivity