Angelman-like Phenotype, X-Linked (SLC9A6)
Researchers at Greenwood Genetic Center, along with
international collaborators, have identified mutations in a novel
X-linked mental retardation syndrome gene (SLC9A6). The SLC9A6 gene on
Xq26.3 encodes the Na+/H+ exchanger, NHE6. Mutations have been found in
the SLC9A6 gene in multiple families with an X-linked mental retardation
syndrome which clinically resembles Angelman syndrome. Features include
the Angelman syndrome facial gestalt, mental retardation, ataxia,
microcephaly and seizures
Clinical testing for mutations in SLC9A6 is now
available through the Molecular Diagnostic Laboratory of the Greenwood
Genetic Center. This testing should be considered for males with a high
clinical suspicion of Angelman syndrome, but with negative methylation
and/or UBE3A studies.
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:
- Unknown mutation: 83890, 83898(x12), 83904(x5),
83909(x5), 83912
- Known mutation: 83890, 83898, 83904(x2), 83909,
83912
|
