CDKL5-Related Atypical Rett Syndrome (STK9)
Cyclin-dependent kinase-like 5 (CDKL5 or STK9) has been
associated with an atypical variant of Rett syndrome, with severe
early-onset seizures or infantile spasms, loss of communication and
motor skills, and severe mental retardation. The CDKL5/STK9 gene has
been localized to Xp22, and mutations in this gene are predominantly
seen in females.
Sample requirements: STK9 testing offered in
this laboratory uses DNA as the starting nucleic acid for analysis. 5 to
10ml of peripheral blood collected in and EDTA (lavender top) Vacutainer
tube is preferred. The minimal blood needed for reliable DNA isolation
is 3 ml.
Transport: All samples should be shipped at
room temperature and delivered via overnight courier. (FedEx is
preferred.) Do not freeze the specimen. It is preferable to ship samples
early in the week for delivery Monday through Friday. Please contact
Jo Anne Babb or Mike Friez (1-800-473-9411) in the Molecular
Diagnostic Laboratory for details regarding transport.
Analysis standards: Testing will be completed
within 6 weeks of sample receipt. The referring party will be contacted
should delays arise. Technical staff members assess the quality and
interpretation of all test results. Following an independent analysis of
results by the Director of the Laboratory, a hard copy report will be
issued. Verbal reports with consultation are available upon request by
the referring party.
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 will be
supplied upon request.
Unknown mutation: CPT codes: 83890, 83898
(x11), 83904 (x8), 83909 (x8), 83912
Known mutation: CPT codes: 83890, 83898, 83904
(x2), 83909, 83912
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