Physicians must contact the MMGL-MGL laboratory at 734-615-2429 prior to sending samples for new testing. A known positive control sample must also be provided. Collect specimen in a lavender top tube. Send intact whole blood specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Alternatively, send 5-10 mcg of highly purified genomic DNA (at a concentration of > or = 0.05 mg/mL) in a 1 X T.E (pH 7.5-8) buffer. The laboratory only accepts DNA that was extracted or isolated by and in a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS. DNA specimens must pass MMGL quality control analysis before use. If the previous testing of the proband was not performed by the MMGL laboratory, please also provide a copy of the clinical molecular genetics report issued by the CLIA-certified testing laboratory for the proband, patient or family member in which the mutation was previously detected. Obtaining informed consent from the patient (or legally authorized representative) and ordering physician prior to testing is highly recommended for this test. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/media/188.