Rett
Syndrome
A neurodevelopmental disorder that affects
females, Rett syndrome is associated with cortical atrophy, stereotypical
hand movements and severe mental deficiency. With an incidence
of 1 in 10,000 - 15,000, it is one of the most common causes
of mental retardation in females. Rett syndrome is characterized
by loss of acquired skills after a period of normal development
in infancy. Mutations in X-linked methyl-CpG binding protein
2 (MECP2) which cause Rett syndrome include both nonsense (R168X
and R255X) and missense (R106W and R306C) mutations.
Genetic analysis for Rett Syndrome at
the Greenwood Genetic Center includes complete sequencing of
the entire coding region of the MECP2 gene. Further testing by
MLPA for deletions and duplications is available for
individuals that test negative via sequencing, but continue to carry a
clinical diagnosis of Rett syndrome.
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
2-3 weeks 14
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.
Unknown mutation:
- CPT Codes: 83890, 83898 (x3), 83904 (x7),
83909 (x3), 83912
Known mutation:
- CPT Codes: 83890, 83898, 83904 (x2), 83909,
83912
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