MED12-related syndromes

Disorders FG syndrome (Opitz-Kaveggia syndrome), Lujan-Fryns syndrome
Gene Name MED12
Clinical info 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 (4,5,20,21,22,28 and 36).
Indications Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) tube Vacutainer tube is preferred.  The minimal blood needed for reliable DNA isolation is 3 ml.
Transport 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.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes

Unknown mutation: 81401

Known mutation: 81403

Deletion/Duplication Analysis: 81405


$800 for unknown mutation

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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