X-Linked Hydrocephalys (L1CAM)
L1CAM is associated with a phenotype spectrum including
X-linked hydrocephalus, MASA (mental retardation, aphasia, spastic
paraplegia and adducted thumbs), X-linked complicated hereditary spastic
paraplegia type 1 (SPG1) and X-linked agenesis of the corpus callosum.
The gene encodes for neuronal L1 cell adhesion molecules in the central
and peripheral nervous systems, and has been localized to Xq28.
Sample requirements: L1CAM testing offered in
this laboratory uses DNA as the starting nucleic acid for analysis. This
requires 5 to 10 ml of peripheral blood collected in an EDTA Vacutainer
(lavender top).
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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