FRAXE Syndrome

Lab studies request form | CPT Codes/Price List (PDF)

Expansions of a polymorphic (CCG) repeat in the FMR2 gene have been associated with a phenotype of mild mental handicap and severe language delay. The FRAXE XE "FRAXE" disorder has no distinct dysmorphology, making clinical diagnosis difficult. Females with FMR2 XE "FMR2" expansions are typically normal, suggesting that this disorder may follow an X-linked XE "X-linked" pattern of expression. The Greenwood Genetic Center is currently offering analysis for male patients only. Females with a confirmed family history may also be submitted for detecting carrier status.

Specimen Requirements: 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer^TM tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer^TM tubes (yellow top) may be substituted. Prenatal studies require two confluent T-25 flasks containing amniocytes. A maternal blood sample is also requested for prenatal analysis.

Transport: The specimen should be kept at room temperature and delivered via overnight shipping. FedEx delivery 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 a Friday can be safely designated for Monday delivery. Please contact JoAnne Babb (1-800-473-9411), the Molecular Diagnostic Laboratory coordinator, for shipping information.

Analysis Standards: Analysis will be completed within 2-3 weeks from sample receipt. The quality and interpretation of test results are assessed by the laboratory director. Technical staff 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 and their 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 is available and explanations of testing protocols will be supplied upon request.

CPT Codes: 83890, 83898, 83909, 83912