MED12 Associated Syndromes
FG (Opitz-Kaveggia) Syndrome,
Lujan-Fryns Syndrome
Lab studies
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CPT Codes/Price
List (PDF)
Mutations in the MED12 gene have been found in
individuals with clinical diagnoses of FG syndrome (Opitz-Kaveggia syndrome)
and Lujan-Fryns syndrome. The gene is localized to Xq13. The majority of
mutations have been found in a select number of exons, which are offered in
the 1st tier of testing. Full sequencing of the cDNA is also available.
Samples for both tiers of testing can be submitted simultaneously.
Sample requirements: The MED12 testing offered
uses DNA for the 1st tier of the analysis and RNA for the 2nd tier of the
analysis. The 1st tier of testing requires 5 to 10 ml of peripheral blood collected
in an EDTA (lavender top) tube. The 2nd tier of testing requires a peripheral
blood sample collected in a Qiagen PAXgene Blood RNA tube. The PAXgene tube
contains approximately 7 ml of RNA-stabilizing solution. During collection, the
tube is designed to stop filling after collecting 2-3 ml of blood required for
analysis. As these specialized tubes are not normally available in most clinical
settings, please contact the Molecular Diagnostic Laboratory to request a
PAXgene Blood RNA tube with enclosed instructions for drawing. (Please note: for
optimal results, the specimen must be collected directly into the PAXgene tube.
Blood should not be transferred from other Vacutainer tubes into a PAXgene
tube.)
Transport: All samples should be shipped at room
temperature and delivered via overnight courier. (FedEx is preferred.) Do not
freeze the specimen. It is preferable to
ship samples early in the week for delivery Monday through Friday. Please
contact Jo Anne Babb or Mike Friez (1-800-473-9411) in the Molecular
Diagnostic Laboratory for details regarding transport.
Analysis Standards: Testing will be completed within
4-6 weeks of sample receipt. The referring party will be contacted should delays
arise. Technical staff members assess the quality and interpretation of all test
results. Following an independent analysis of results by the Director of the
Laboratory, a hard copy report will be issued. Verbal reports with consultation
are available upon request by the referring party.
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.
Tier 1 (sequencing of exons 4, 5, 21, 22, 28 and 36):
CPT codes: 83890, 83898 (x4), 83904 (x3), 83909 (x3), 83912
Tier 2 (full sequencing of cDNA): CPT
codes: 83890, 83898 (x10), 83904 (x5), 83909 (x5), 83912
Carrier for known mutation: CPT codes:
83890, 83898, 83904 (x2), 83909, 83912
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