Saethre-Chotzen
Syndrome [TWIST Gene]
Saethre-Chotzen Syndrome is one of the
most common autosomal dominant disorders of craniosynostosis,
affecting approximately 1/2000 newborn infants. It is characterized
by craniofacial and limb anomalies. Mutations in the TWIST gene,
which maps to chromosome 7p21-p22 are found in a majority of
individuals with Saethre-Chotzen Syndrome. Nonsense, missense,
insertion, and deletion mutations of the TWIST gene have been
found in studies of patients with Saethre-Chotzen syndrome.
Analysis of patients with Saethre-Chotzen
Syndrome in the Greenwood Genetic Center laboratory includes
complete sequencing of the entire coding region of the TWIST
gene.
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
2 weeks of sample receipt. The lab director assesses the quality
and interpretation of results. 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 will be supplied
upon request.
CPT Codes: 83890, 83898 (x2),
83904 (x4), 83912
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