Pitt-Hopkins Syndrome (TCF4)
Pitt-Hopkins syndrome is
characterized by mental retardation, a wide mouth, intermittent hyperventilation
and apnea. Other features may include thick lips, prominent nose and clubbing of
the fingers and toes. Haploinsufficiency of transcription factor 4 (TCF4),
located at 18q21.1, has been identified as the causative factor in Pitt-Hopkins
syndrome. The Molecular Diagnostic Laboratory of the Greenwood Genetic Center is
offering gene sequencing of TCF4.
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
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