Laboratory: Genomics
Test Name:
Test Code: MD
Clinical Information:
Testing done for confirmation of clinical diagnosis in patients with a diagnosis of medullar thyroid carcinoma (MTC), pheochromocytoma, parathyroid adenoma or hyperplasia and a positive family history of the MEN2A-related cancers.  Testing available for simplex cases when onset of cancer is <35 years of age.  Testing involves sequencing of exons 10, 11, 13-16 RET gene.  These exons account for 98% of patients with a clinical diagnosis of MEN2.  
Testing of asymptomatic relatives available for patients with documented positive family history.  Prior consultation with the WRHA Genetics & Metabolism Program is strongly recommended.  All out-of-province testing subjected to final laboratory approval.  For more information, see:
Collection Devices:
Specimen Required:
Blood: 8.0 mL
Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature.
Reference Values:
An interpretive report from the reference laboratory will be forwarded to the physician.
Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 12 to 14 weeks.
See Also:
More Information:
Do NOT centrifuge.  Ship blood samples at room temperature to Health Sciences Centre - MS5.  Extracted DNA will be forwarded for testing to a reference laboratory.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).