Lab Information Manual

Laboratory:

Genomics

Test Name:

HEREDITARY PANCREATITIS - PRSS1 GENE - (B)

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: http://www.ncbi.nlm.nih.gov/omim/167800

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

Blood: 8.0 mL

Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature.

Referral:

Requisition:

_SH HSC Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report from the reference laboratory will be forwarded to the physician.

Availability:

Extracted DNA is forwarded to an out-of-province laboratory for testing, if approved. Turnaround time is estimated to be 8 to 12 weeks.