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Test ID HPPAN Hereditary Pancreatitis Panel, Varies

Useful For

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

 

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

 

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

Genetics Test Information

This test includes Sanger sequencing to evaluate for mutations in the PRSS1 gene, next-generation sequencing to evaluate for mutations in the CFTR, CTRC, and SPINK1 genes, and multiplex ligation-dependent probe amplification for the detection of large deletions and duplications within the CFTR gene.

Highlights

This test evaluates for mutations within the 4 most common genes associated with susceptibility to chronic pancreatitis: PRSS1, CFTR, CTRC, and SPINK1

 

This assay provides diagnostic confirmation of hereditary pancreatitis or identification of gene mutations contributing to pancreatitis in an individual or family

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing and Gene Dosage Analysis by Multiplex Ligation-Dependent Probe Amplification (MLPA)

Reporting Name

Hereditary Pancreatitis Panel

Specimen Type

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 Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) Performed

Performed weekly

Report Available

14 to 20 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

81222

81223

81404 x2

81405

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HPPAN Hereditary Pancreatitis Panel In Process

 

Result ID Test Result Name Result LOINC Value
52581 Result Summary 50397-9
52582 Result 82939-0
52583 Interpretation 69047-9
52584 Additional Information 48767-8
52585 Specimen 31208-2
52586 Source 31208-2
52587 Released By 18771-6

NY State Approved

Yes

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 US Food and Drug Administration.

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

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