GTR Home > Tests > IL1RAPL1-Related X-Linked Intellectual Disability (XLID)

Overview

Test order codeHelp: 8626

Test name

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IL1RAPL1-Related X-Linked Intellectual Disability (XLID)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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

Summary of what is tested

1 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Approximately 42% of patients with a family history of XLID are anticipated to have mutations in one of the 81+ known genes implicated in XLID.

Citations

Not provided

Clinical utility

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Not provided

Testing strategy

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Test can be run as individual gene sequence analysis, as part of the XLID Next-Gen panel, or specific site analysis. Deletion/duplication analysis by gene-targeted array genomic hybridization

How to order

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Order URL Help: http://ambrygen.com/forms

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: 8626
  • 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.