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Laboratory: Genomics
Test Name:
Test Code: MD
Clinical Information:
Testing done for confirmation of clinical diagnosis in patients with recurrent (> 2 instances) acute pancreatitis, idiopathic chronic pancreatitis or idiopathic pancreatitis in a child requiring hospitalization.  Consider ruling out cystic fibrosis in cases without a family history prior to requesting PRSS1 testing.  Testing includes identification of activating mutations R122H and N291 in PRSS1 gene which account for 30-70% of hereditary pancreatitis cases.  Asymptomatic testing available for patients with documented positive family history.  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 8 to 12 weeks.
See Also:
More Information:
Do NOT centrifuge.  Ship blood samples at room temperature to Health Sciences Centre - MS5.  Extracted DNA will be forwarded to a reference laboratory.  Specimens sent for Molecular tests are not to be used for other tests (ie. CBC).