PRSS1 Full Gene Analysis
| Label Mnemonic: | PANC |
| Epic code: | LAB3789 |
| Downtime form: | A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
6240-8 RCP
356-8593
Specimen(s):
Whole Blood
Specimen
Instructions:
1. Invert several times to mix blood.
2. Send specimen in original tube.
Specimen preferred to arrive reference laboratory within 96 hours of collection.
2. Send specimen in original tube.
Specimen preferred to arrive reference laboratory within 96 hours of collection.
Collection Medium:
 |
| Lavender top tube 3 mL (EDTA) |
Alternate
Collection Media:
Yellow top tube 8.5 mL (ACD solution A)
Minimum:
Preferred Minimum: 3.0 mL whole blood in (EDTA) tube
Absolute Minimum: 1.0 mL whole blood in (EDTA) tube
Absolute Minimum: 1.0 mL whole blood in (EDTA) tube
Turn Around
Time:
14 days upon receipt at reference laboratory
Reference Range:
An interpretive report will be provided.
Interpretive Data:
All detected alterations will be evaluated according to American
College of Medical Genetics and Genomics (ACMG) recommendations.
Variants will be classified based on known, predicted, or possible
pathogenicity and reported with interpretive comments detailing their
potential or known significance.
Comments:
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.
Cautions:
Some individuals who have a diagnosis of hereditary pancreatitis and/or involvement of PRSS1 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 PRSS1 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 Commercial Mailout Laboratory (356-3527) 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.
Please print, complete, and submit the following with the appropriate signatures and the correct sample type:
Molecular Genetics: Congenital Inherited Diseases Patient Information Sheet and the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request.
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.
Cautions:
Some individuals who have a diagnosis of hereditary pancreatitis and/or involvement of PRSS1 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 PRSS1 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 Commercial Mailout Laboratory (356-3527) 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.
Please print, complete, and submit the following with the appropriate signatures and the correct sample type:
Molecular Genetics: Congenital Inherited Diseases Patient Information Sheet and the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the A-1a Miscellaneous Request.
Methodology:
Polymerase Chain Reaction (PCR)/DNA Sequencing
CPT Code:
81404-PRSS1 (protease, serine, 1 [trypsin 1]) (eg, hereditary
pancreatitis), full gene sequence