Genomic Unity® Intellectual Disability Analysis

NR001

Intellectual disability is a neurodevelopmental disorder defined by limitations in intellectual functioning and adaptive behavior, with an onset before 18 years of age.

Genomic Unity® Intellectual Disability Analysis is an effective test for the genetic cause of intellectual disability in patients with the following presentations:

It is an effective test for X-linked as well as autosomal causes of intellectual disability.

Order this test when the patient presents with intellectual disability, with or without additional clinical symptoms, and you'd like the option to reflex up to Genomic Unity® Whole Genome Analysis.

  • Constitutional Genome-Wide Copy Number Variant Analysis
  • Early-onset intellectual disability disorder STR analysis: AFF2, FMR1
  • Full sequencing and duplications/deletions analysis of intellectual disability associated genes: ADNP, CHD2, FOXG1, FOXP1, FOXP2, GRIN2A, GRIN2B, NLGN3, NLGN4X, MECP2, SHANK3 and PTEN.

Optionally includes:

  • Reflex to Genomic Unity® Whole Genome Analysis or Genomic Unity® Exome Analysis

AFF2, FMR1, ADNP, CHD2, FOXG1, FOXP1, FOXP2, GRIN2A, GRIN2B, NLGN3, NLGN4X, MECP2, SHANK3 and PTEN

Disorders that can be tested for include:

ADNP-related ID/ASD
Fragile X syndrome
Fragile XE syndrome
Epileptic encephalopathy
Rett syndrome
Mental retardation with language impairment and with or without autistic features
Speech-language disorder-1
Epilepsy, focal, with speech disorder and with or without mental retardation
GRIN2B-related neurodevelopmental disorder
Phelan-McDermid syndrome

Structural variants:
96% clinical sensitivity

SNVs and Indels up to 50bp
99.1% sensitivity
99.2% positive predictive value

Short tandem repeats:
Short tandem repeats in pathogenic ranges, if identified and reported, are orthogonally confirmed (e.g. PCR, Southern blot or other appropriate technique) by a third party CLIA laboratory.

  • 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.
 

Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg

Turn around time is 10-12 weeks from sample receipt.

Please do not submit Protected Health Information (PHI) through this email address.

If you need to submit Protected Health Information (PHI), please call us at 617-209-2090 and we will work with you to submit the information through an alternate mechanism.

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