FOXG1 - Congenital Rett Syndrome Variant
Mutations in the FOXG1 gene at 14q12 have been
identified in patients with the congenital variant of Rett syndrome.
FOXG1 and MECP2 are hypothesized to share a common molecular
mechanism during neuronal development.
Clinical testing for mutations in FOXG1 is now
available through the Molecular Diagnostic Laboratory of the Greenwood
Genetic Center. Appropriate candidates for testing may include both
males and females who meet the diagnostic criteria for Rett syndrome
variant phenotypes, particularly those with onset at or shortly after
birth and/or those with a negative MECP2 testing.
FOXG1 can also be performed as part of our
Rett/Angelman syndrome 2nd tier panel.
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. If sending cultured cells for testing, please include a
control flask. 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 2-3 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.
Unknown mutation:
- CPT Codes: 83890, 83898 (x5), 83904 (x4), 83909
(x4), 83912
Known mutation:
- CPT Codes: 83890, 83898, 83904 (x2), 83909, 83912
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