CHARGE Syndrome
CHARGE syndrome occurs in approximately 1 in 10,000
newborns. Individuals with CHARGE syndrome will exhibit some or all of
the following features: coloboma, heart defect, choanal atresia,
retarded growth and development, genital abnormalities, and ear
anomalies.
CHD7 is the only gene known at this time to be associated with CHARGE
syndrome. Approximately 60-65% of individuals with a clinical diagnosis
of CHARGE syndrome will have a detectable mutation in this gene. One
autosomal form of Kallmann syndrome (KAL5) is
also caused by a mutation in CHD7. The
Greenwood Genetic Center Molecular Laboratory offers sequencing for the
CHD7 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. If sending cultured cells for testing, please include a
control flask. 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.
Unknown mutation:
- CPT Codes: 83890, 83898 (x13), 83904 (x10), 83909
(x10), 83912
Known mutation:
- CPT Codes: 83890, 83898, 83904 (x2), 83909, 83912
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