SPINK1 - N34S Mutation in Pancreatitis

Background

The serine protease inhibitor Kazal type 1 (SPINK1; PST1) is a pancreatic secretory trypsin inhibitor. Since ~20% of the capacity of total potential trypsin activity in the pancreas can be inactivated by the available SPINK1 gene products, SPINK1 is thought to play a major role as a first line defense in protecting the pancreas from premature trypsin activation.

OMIM: 167790

Clinical Utility

Detection of a hereditary mutation that influences pancreatitis. The test is done on peripheral blood specimens for confirmation of clinical diagnosis, carrier status or pre-symptomatic testing.

Methodology

PCR amplification and Sanger sequencing of regions with known hotspots.

Loci Tested

SPINK1 c.221A>G; N34S

Specimen Requirements

Peripheral blood collected in EDTA (purple top) is preferred, 3-10mL.

Turnaround Time

Within 1-3 weeks of receipt

CPT

81479

Shipment Must Include

References

1. Witt, H. et al, 2000, Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis, Nature genetics (25), p. 213-216.
2. Pfützer, R. et al, 2000, SPINK1/PST1 Polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis, Gastroenterology (119), p. 615-623.