Genomic Unity® Genome-Wide CNV and FMR1 Analysis

NR011

Genomic Unity® Genome-Wide CNV and FMR1 Analysis is a diagnostic test designed to identify genetic variants that cause developmental delays, intellectual disability and autism spectrum disorders.

Test Description

Genomic Unity® Genome-Wide CNV and FMR1 Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on genome-wide copy number variant analysis paired with FMR1 analysis.

Genomic Unity® Genome-Wide CNV and FMR1 Analysis provides a single, unified clinical report that replaces a battery of tests including: chromosomal microarray (CMA), multiplex ligation dependent probe amplification (MLPA) and PCR and southern blot tests for FMR1 short tandem repeat expansions.

When to Order

Order this test when clinical symptoms are consistent with a form of developmental delays, intellectual disability, and/or autism spectrum disorders, with or without additional clinical symptoms.

Included Analyses

  • Constitutional genome-wide copy number variant (CNV) analysis including: copy number variants, duplications/deletions, regions of homozygosity, inversions, mobile element insertions and aneuploidy
  • Short tandem repeat (STR) analysis of the FMR1 gene. (Learn more).

Optionally includes:

Turnaround Time

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

Sample Types

CPT Codes

81243, 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® Genome-Wide CNV and FMR1 Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

Structural variants:
96% clinical sensitivity

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