Hunter Syndrome
Hunter
syndrome is an X-linked lysosomal storage disorder caused by a deficiency of
iduronate-2-sulfatase Typically, the disorder is diagnosed by
enzymatic assay, however, the determination of carrier status using enzyme
assay has proved problematic. Sequencing of the IDS gene has been shown to
detect 80-90% of causative mutations in Hunter syndrome patients. This
information can be used to determine the carrier status for interested
family members.
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 Tim Wood (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 4 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.
Unknown mutation:
- CPT Codes:
83890, 83898 (x6), 83904 (x6), 83909 (x6), 83912
Known mutation:
- CPT Codes: 83890, 83898, 83904 (x2), 83909, 83912
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