Kallmann Syndrome (KAL5)
Kallmann syndrome is characterized by hypogonadotropic
hypogonadism and anosmia and includes both X-lined and autosomal forms.
One autosomal form of Kallmann syndrome (KAL5) is caused by a mutation
within the CHD7 gene at 8q12.1. CHD7 encodes the chromodomain helicase
DNA-binding protein-7. A majority of cases of
CHARGE syndrome are also caused by
mutations within CHD7. KAL5, as well as normosmic hypogonadotrpic
hypogonadism (IHH), are postulated to be mild allelicvariants of CHARGE
syndrome. 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.
CPT Codes:
- Unknown mutation: 83890, 83898 (x13), 83904
(x10), 83909 (x10), 83912
- Known mutation: 83890, 83898, 83904 (x2), 83909,
83912
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