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Non-syndromic X-linked Mental Retardation Panel

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X-linked mental retardation (XLMR) has a prevalence of 2.6 cases per 1000 in the general population and accounts for over 10% of all cases of mental retardation. Non-syndromic XLMR is defined as the presence of mental retardation without other dysmorphic, neuromuscular, metabolic or behavioral phenotypes. Non-syndromic XLMR accounts for 2/3 of all cases of XLMR.

The Molecular Laboratory of the Greenwood Genetic Center has developed a non-syndromic XLMR panel providing sequencing analysis of the entire coding regions of nine non-syndromic XLMR genes. This assay is expected to detect mutations in approximately 10% of the non-syndromic XLMR patients based upon patient testing and current literature.

This panel includes sequencing of the following genes:

The Greenwood Genetic Center is actively involved in the research and diagnosis of XLMR. An updated listing of XLMR syndromes including new and revised gene localizations can be found at www.ggc.org/xlmr.htm.

Specimen requirements: 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be submitted. Please contact the laboratory for more information.

Transport: Please contact the Molecular Diagnostic Lab Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Analysis standards: Analysis will be complete within 6 weeks of sample receipt. The laboratory director and technical staff members independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.

Reporting of Test Results: Test results with interpretation will be mailed and/or faxed following completion of the test. Verbal reports will be telephoned to the person(s) requesting the test when an abnormal test result occurs. Consultation with the laboratory director and explanations of testing protocols are available upon request.

CPT Codes: 83890, 83898 (x22), 83904 (x22), 83909 (x22), 83912