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GTR Home > Tests > Autosomal Recessive Non-Specific Intellectual Disability Panel

Overview

Test name

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Autosomal Recessive Non-Specific Intellectual Disability Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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Click Indication tab for more information.

How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Amniocytes
Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Peripheral (whole) blood
Product of conception (POC)
Saliva

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • 1. Moeschler JB, et al. “Clinical genetic evaluation of the child with mental retardation or developmental delays”. (2006) Pediatrics 117: 2304-16. 2. Moeschler JB. “Genetic evaluation of intellectual disabilities”. (2008) Semin Pediatr Neurol 15:2-9. 3. Gecz J, et al. “The genetic landscape of intellectual disability arising from chromosome X”. (2009) Trends Genet 25:308-16. 4. Rauch A, et al. “Diagnostic Yield of Various Genetic Approaches in Patients with Unexplained Developmental Delay or Mental Retardation.” (2006) Am. J. Med. Genet A. 140A:2063-2074.

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.