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Test ID: HPANP Hereditary Pancreatitis Gene Panel, Varies


Ordering Guidance


Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about testing option, call 800-533-1710.



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.

 

Submit only 1 of the following specimens:

 

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 whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated

 

Specimen Type: Skin biopsy

Supplies: Fibroblast Biopsy Transport Media (T115)

Container/Tube: Sterile container with any standard cell culture media (eg, minimal essential media, RPMI 1640). The solution should be supplemented with 1% penicillin and streptomycin.

Specimen Volume: 4-mm punch

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.

 

 

Specimen Type: Cultured fibroblasts

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured fibroblast cells from a skin biopsy from another laboratory. Cultured cells from a prenatal specimen will not be accepted.

Specimen Stability Information: Ambient (preferred)/Refrigerated (<24 hours)

Additional Information: A separate culture charge will be assessed under CULFB / Fibroblast Culture for Biochemical or Molecular Testing. An additional 3 to 4 weeks is required to culture fibroblasts before genetic testing can occur.


Forms

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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. If not ordering electronically, complete, print, and send a Gastroenterology and Hepatology Test Request (T728) with the specimen.

Useful For

Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis

 

Identifying gene variants contributing to pancreatitis in an individual or family

 

Identifying gene variants to allow for predictive and diagnostic testing in family members

Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 4 genes associated with hereditary pancreatitis (HP): CFTR, CTRC, PRSS1, and SPINK1. See Targeted Genes and Methodology Details for Hereditary Pancreatitis Gene Panel and Method Description for additional details.

 

Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for HP.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No

Testing Algorithm

For skin biopsy or cultured fibroblast specimens, fibroblast culture testing will be performed at an additional charge. If viable cells are not obtained, the client will be notified.

Method Name

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

Reporting Name

Hereditary Pancreatitis Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL; Skin biopsy or cultured fibroblasts: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Hereditary pancreatitis (HP) is defined as 2 or more individuals in a family affected with pancreatitis involving at least 2 generations.(1) Variants 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.

 

PRSS1:

The most common monogenic cause of HP is the presence of a variant in the cationic trypsinogen (PRSS1) gene. Variants in the PRSS1 gene are inherited in an autosomal dominant manner. It has been reported that as many as 80% of patients with symptomatic hereditary pancreatitis have a causative PRSS1 variant.(1) HP cannot be clinically distinguished from other forms of pancreatitis. However, PRSS1 variants are generally restricted to individuals with a family history of pancreatitis and are infrequently found in patients with alcohol-induced pancreatitis. Although several variants have been identified, the p.R122H, p.N29I, and p.A16V variants are the most common disease-causing variants in PRSS1 associated with HP.(2) Patients with HP are also at an increased risk for developing pancreatic cancer. Studies have estimated the lifetime risk of developing pancreatic cancer to be as high as 40%.(3)

 

SPINK1:

Biallelic variants in the SPINK1 gene have been associated with increased susceptibility to chronic pancreatitis especially in families without PRSS1 variants; however, it is unknown if biallelic variants alone are sufficient to cause chronic pancreatitis. Additionally, heterozygous SPINK1 variants appear to modify disease severity when observed in combination with variants in other genes.(1,2,4) Unlike PRSS1 variants, SPINK1 variants have been associated with alcohol-induced pancreatitis.(4)

 

CFTR:

Pancreatitis is a known manifestation of an atypical CFTR-related disorder, which results from biallelic disease-causing variants in the CFTR gene. However, CFTR variants can also cooccur with variants in CTRC, SPINK1, or CASR to confer pancreatitis disease susceptibility.(1-4) When observed in the context of a SPINK1 variant, for example, heterozygous variants in CFTR are associated with a 2- to 5-fold increased risk for pancreatitis as compared to the general population.(4)

 

CTRC:

Variants in CTRC have been observed in individuals with chronic pancreatitis in association with other risk factors, such as variants in CFTR or SPINK1 or specific environmental risk factors. Thus, chronic pancreatitis may be attributable to the presence of CTRC variants in the context of other risk factors as opposed to CTRC variants alone.(1)

Reference Values

An interpretive report will be provided.

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(5) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Raphael KL, Willingham FF: Hereditary pancreatitis: current perspectives. Clin Exp Gastroenterol. 2016 Jul 26;9:197-207. doi: 10.2147/CEG.S84358

2. Suzuki M, Minowa K, Nakano S, Isayama H, Shimizu T: Genetic abnormalities in pancreatitis: An update on diagnosis, clinical features, and treatment. Diagnostics (Basel). 2020 Dec 26;11(1):31. doi: 10.3390/diagnostics11010031

3. Shelton C, LaRusch J, Whitcomb DC: Pancreatitis overview. In: Adam MP, Everman DB, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2014.Updated July 2, 2020. Accessed January 17, 2023.Available at www.ncbi.nlm.nih.gov/books/NBK190101/

4. Hasan A, Moscoso DI, Kastrinos F. The role of genetics in pancreatitis. Gastrointest Endosc Clin N Am. 2018 Oct;28(4):587-603.

5. Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee: 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

Day(s) Performed

Varies

Report Available

28 to 42 days

Test Classification

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

CPT Code Information

81223

81404 x2

81405

81479 (if appropriate for government payers)

88223- Tissue culture, skin, solid tissue biopsy (if appropriate)

88240- Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HPANP Hereditary Pancreatitis Gene Panel 22070-7

 

Result ID Test Result Name Result LOINC Value
619845 Test Description 62364-5
619846 Specimen 31208-2
619847 Source 31208-2
619848 Result Summary 50397-9
619849 Result 82939-0
619850 Interpretation 69047-9
619851 Additional Results 82939-0
619852 Resources 99622-3
619853 Additional Information 48767-8
619854 Method 85069-3
619855 Genes Analyzed 82939-0
619856 Disclaimer 62364-5
619857 Released By 18771-6
Mayo Clinic Laboratories | Genetics and Genomics Additional Information:

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