Genomic Unity® Intellectual Disability Analysis

Test Description

Test Code – NR001

Intellectual disability is a neurodevelopmental disorder defined by limitations in intellectual functioning and adaptive behavior that begins before 18 years of age. Intellectual disability can be isolated or non-syndromic, as well as syndromic. In syndromic intellectual disability, accompanying features may include distinct facial features, hypotonia, seizures, congenital contractures, ataxia, and more.

Genomic Unity® Intellectual Disability Analysis uses a whole genome sequencing platform to diagnose genetic causes of intellectual disability by detecting copy number variants and duplication/deletion analysis of the entire genome, sequence analysis in a set of 14 genes, and repeat expansion analysis of AFF2 and FMR1. Testing includes autosomal and X-linked forms of intellectual disability.

When to order

Order this test when clinical symptoms are consistent with a form of intellectual disability, with or without additional clinical symptoms. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Whole Genome Analysis 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)
  • Sequence analysis of intellectual disability-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
  • Short tandem repeat (STR) analysis the AFF2 and FMR1 genes

Optionally includes:

Included Genes

Test Performance

 %
Sensitivity for SNVs
 %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

Short tandem repeats:

Due to the variable nature of repetitive sequences and sequence-specific differences in detection and repeat evaluation, orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

CPT Codes

81229, 81243, 81171

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

Variantyx Blood

Blood

5ml

Variantyx Saliva

Saliva

2ml

Variantyx DNA

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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