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Test ID: CTRCZ CTRC Gene, Full Gene Analysis, Varies

Useful For

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

 

Identification of CTRC 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

CTRC Gene, Full Gene Analysis

Specimen Type

Varies


Advisory Information


Genetic testing for all 4 pancreatitis susceptibility genes, including CTRC, 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

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: 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.


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. However, mutations in CTRC have also been observed in individuals with chronic pancreatitis in association with other risk factors such as mutations in CFTR or SPINK1 or specific environmental risk factors. Thus, in some cases, chronic pancreatitis may be attributable to the presence of CTRC mutations in the context of other risk factors as opposed to CTRC mutations alone.

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

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 (Internet) Edited by RA Pagon, MP Adam, HH Ardinger, et al: University of Washington, Seattle, 1993-2018. 2014 Mar 13. Accessed January 2019. Available at http://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

81405

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CTRCZ CTRC Gene, Full Gene Analysis In Process

 

Result ID Test Result Name Result LOINC Value
52436 Result Summary 50397-9
52437 Result 82939-0
52438 Interpretation 69047-9
52439 Additional Information 48767-8
52440 Specimen 31208-2
52441 Source 31208-2
52442 Released By 18771-6

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 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

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-inherited-molecular