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

Testing for the SPINK1 N34S mutation is performed by amplifying exon 3 of the SPINK1 gene and digesting the PCR product with a restriction enzyme specific for the mutant locus.

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

81400

Shipment Must Include

Specimen
Requisition form
Patient pathology report

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.