Genomic Unity® Constitutional Genome-Wide Copy Number Variant Analysis

CP004

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

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:


Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Sample Types

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