Overview
Autosomal Recessive Non-Specific Intellectual Disability Panel
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening
Click Indication tab for more information.
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 HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: 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
- 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)
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.
Not provided
- 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.
