Sign in →

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

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

Reporting Name

SPINK1 Gene, Full Gene Analysis

Specimen Type

Varies

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.

 

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.

Additional Information: Specimen preferred to arrive within 96 hours of collection.

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.

Cautions

Some individuals who have a diagnosis of hereditary pancreatitis and/or involvement of SPINK1 may have a mutation that is not identified by this method (eg, large genomic deletions or duplications, promoter mutations, deep intronic mutations). The absence of a mutation, therefore, does not eliminate the possibility of a diagnosis of hereditary pancreatitis. For predictive testing of asymptomatic individuals, it is important to first document the presence of an SPINK1 gene mutation in an affected family member.

 

In some cases, DNA alterations of undetermined significance may be identified.

 

Rare polymorphisms exist that could lead to false-negative or false-positive results. If results obtained do not match the clinical findings, additional testing should be considered.

 

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.

 

Test results should be interpreted in the context of clinical findings, family history, and other laboratory data. Errors in our interpretation of results may occur if information given is inaccurate or incomplete.

Day(s) Performed

Performed weekly; Varies

Report Available

14 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

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

NY State Approved

Yes