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

 %
Clinical sensitivity for structural variants

CPT Codes

81229, 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.

Contact Us

Please contact customer service to request a kit.

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