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:
- Syndromic intellectual disability - intellectual disability presents along with other clinical features such as distinct facial features, hypotonia, seizures, congenital contractures, ataxia and many more
- Non-syndromic intellectual disability - intellectual disability presents as the only clinical feature
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.
Blood - 5ml
Saliva - contact us for a kit
gDNA - 5μg