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Test ID: SPNKZ SPINK1 Gene, Full Gene Analysis, Varies

Advisory Information

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

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Specimen Type: Whole blood


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.

Additional Information: To ensure minimum volume and concentration of DNA is met, the preferred volume of blood must be submitted. Testing may be canceled if DNA requirements are inadequate.


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

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

Useful For

Identification of SPINK1 gene mutations contributing to pancreatitis in an individual or family


Identification of SPINK1 gene mutations to allow for predictive/diagnostic testing in family members

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

Reporting Name

SPINK1 Gene, Full Gene Analysis

Specimen Type


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)

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.

Reference Values

An interpretive report will be provided.


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. Raphael KL, Willingham FF: Hereditary pancreatitis: current perspectives. Clin Exp Gastroenterol. 2016 Jul 26;9:197-207

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

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

5. 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

6. LaRusch J, Solomon S, Whitcomb DC: Pancreatitis Overview. In GeneReviews 2014 Mar 13. Edited by RA Pagon, MP Adam, HH Ardinger, et al: University of Washington, Seattle, 1993-2018. Accessed January 2019. Available at

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


LOINC Code Information

Test ID Test Order Name Order LOINC Value
SPNKZ SPINK1 Gene, Full Gene Analysis 34497-8


Result ID Test Result Name Result LOINC Value
52429 Result Summary 50397-9
52430 Result 34497-8
52431 Interpretation 69047-9
52432 Additional Information 48767-8
52433 Specimen 31208-2
52434 Source 31208-2
52435 Released By 18771-6
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