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Test ID PRSSZ PRSS1 Gene, Full Gene Analysis, Varies

Useful For

Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis

 

Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members

Genetics Test Information

Testing consists of full gene sequencing of the PRSS1 gene. Includes the following commonly observed mutations: R122H, N29I, and A16V.

Highlights

-Full sequencing of the PRSS1 gene includes R122H, N29I, and A16V mutations

-Mutations in the PRSS1 gene are the most common cause of hereditary pancreatitis

-Useful for diagnostic confirmation of hereditary pancreatitis

Method Name

Polymerase Chain Reaction (PCR) Amplification followed by DNA sequencing

Reporting Name

PRSS1 Gene, Full Gene Analysis

Specimen Type

Varies


Shipping Instructions


Specimen preferred to arrive within 96 hours of draw.



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.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Reference Values

An interpretive report will be provided.

Day(s) Performed

Varies

Report Available

14 to 20 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

81404-PRSS1 (protease, serine, 1 [trypsin 1]) (eg, hereditary pancreatitis), full gene sequence

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PRSSZ PRSS1 Gene, Full Gene Analysis 94215-1

 

Result ID Test Result Name Result LOINC Value
52464 Result Summary 50397-9
52465 Result 82939-0
52466 Interpretation 69047-9
52467 Additional Information 48767-8
52468 Specimen 31208-2
52469 Source 31208-2
52470 Released By 18771-6

NY State Approved

Yes

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