Genomic Unity® Genome wide CNV and FMR1 Analysis
Test Description
Test Code – NR011
Genomic Unity® Genome wide CNV and FMR1 Analysis uses a whole genome sequencing backbone to diagnose genetic causes of developmental delays, intellectual disability and autism spectrum disorders by detecting genome wide copy number variants and chromosomal abnormalities, and repeat expansion analysis of FMR1.
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. You also have the option to reflex up to Genomic Unity® Exome Plus Analysis or Genomic Unity® Exome Analysis or if targeted analysis is non-diagnostic.
Included Analyses
- Constitutional Genome-Wide copy number variant (CNV) analysis (copy number variants, duplications/deletions, regions of homozygosity, inversions, mobile element insertions and aneuploidy)
- Short tandem repeat (STR) analysis FMR1 gene
Optionally includes:
Disorders
This test covers many disorders, including:
- Global developmental delay/ Intellectual Disability with or without dysmorphic features
- Fragile X Syndrome
- Autism spectrum disorder/ Pervasive Developmental Disorder (PDD)
- 22q11.2 Deletion Syndrome
Test Performance
CPT Codes
81349, 81243
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
Contact us for a kit
gDNA
5μg
Turn Around Time
A report will be issued within 4 weeks from receipt of required samples.
