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Test ID: SPNKZ SPINK1 Gene, Full Gene Analysis

Useful For

Identification of gene mutations contributing to pancreatitis in an individual or family

 

Identification of gene mutations to allow for predictive/diagnostic testing in family members

Method Name

Polymerase Chain Reaction (PCR) Amplification Followed by DNA Sequencing

Reporting Name

SPINK1 Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Mutations in several genes, including PRSS1, CFTR, CTRC, and SPINK1 have demonstrated genetic susceptibility to chronic pancreatitis. Disease susceptibility may be monogenic, as is the case with PRSS1, digenic, or multigenic, and multifactorial in which multiple genes and environmental factors play a role in disease expression.

 

The most common monogenic cause of hereditary pancreatitis, in which a single gene mutation confers major risk susceptibility to chronic pancreatitis, is the presence of a mutation in the PRSS1 gene. Biallelic mutations in the SPINK1 gene have also been associated with increased susceptibility to chronic pancreatitis, especially in families without PRSS1 mutations. However, it is currently unknown if biallelic mutations alone are sufficient to cause chronic pancreatitis or if other risk factors are required for disease expression. Additionally, heterozygous SPINK1 mutations appear to modify disease severity when observed in combination with mutations in other genes. Unlike PRSS1 mutations, SPINK1 mutations have been associated with alcohol-induced and tropical pancreatitis.

 

Genetic testing for all 4 pancreatitis susceptibility genes, including SPINK1, is available by ordering HPPAN / Hereditary Pancreatitis Panel.

Reference Values

An interpretive report will be provided.

Interpretation

All detected alterations will be evaluated according to the American College of Medical Genetics and Genomics (AMCG) recommendations.(1) Variants will be classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015 May;17(5):405-424

2. Teich N, Mossner J: Hereditary chronic pancreatitis. Best Pract Res Clin Gastroenterol 2008;22(1):115-130

3. Solomon S, Whitcomb DC: Genetics of pancreatitis: an update for clinicians and genetic counselors. Curr Gastroenterol Rep 2012;14(2):112-117

4. Ellis I: Genetic counseling for hereditary pancreatitis-the role of molecular genetics testing for the cationic trypsinogen gene, cystic fibrosis and serine protease inhibitor Kazal type 1. Gastroenterol Clin North Am 2004;33:839-854

5. LaRusch J, Solomon S, Whitcomb DC. Pancreatitis Overview. In: GeneReviews. Edited by RA Pagon, MP Adam, HH Ardinger, et al: University of Washington, Seattle. 1993-2014. 2014 Mar 13. Available at www.ncbi.nlm.nih.gov/books/NBK190101/

Day(s) and Time(s) Performed

Performed weekly; Varies

Analytic Time

14 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81404-SPINK1 (serine peptidase inhibitor, Kazal type 1) (eg, hereditary pancreatitis), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
SPNKZ SPINK1 Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
52429 Result Summary 50397-9
52430 Result In Process
52431 Interpretation In Process
52432 Additional Information 48767-8
52433 Specimen 31208-2
52434 Source 31208-2
52435 Released By No LOINC Needed

Forms

1. Molecular Genetics: Congenital Inherited Diseases Patient Information (T521) in Special Instructions

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular