Pancreatitis (PRSS1) Sequencing and Deletion/Duplication

3001768
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Example Reports
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Positive

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Patient History for Pancreatitis Testing

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Additional Technical Information
Ordering Recommendation

Preferred test for individuals with idiopathic pancreatitis who are <20 years of age or have two affected first-degree relatives.

Mnemonic
PRSS1 FGA
Methodology

Polymerase Chain Reaction/Sequencing and Multiplex Ligation Dependent Probe Amplification

Performed

Varies

Reported

2-3 weeks

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months

Reference Interval
Interpretive Data

Background Information for Pancreatitis (PRSS1) Sequencing and Deletion/Duplication
Characteristics: Characteristics of PRSS1-related hereditary pancreatitis: Recurrent episodes of pancreatic inflammation that typically begin to present in late childhood, often with signs and symptoms including abdominal pain, nausea, and vomiting. Ultimately, these recurrent episodes of acute pancreatitis progress to permanent damage of the pancreas.
Epidemiology: Incidence of chronic pancreatitis: 5-12 in 100,000 per year
     Prevalence of chronic pancreatitis: approximately 50 in 100,000
Inheritance: Autosomal dominant.
Penetrance: Varies geographically; estimated at 80 percent in the US.
Cause: Pathogenic variants in the cationic trypsinogen (PRSS1) gene.
Clinical Sensitivity: 15 percent of hereditary pancreatitis is caused by pathogenic PRSS1 copy number variants or sequence variants.
Methodology: Bidirectional sequencing of PRSS1 coding regions and intron/exon boundaries and multiplex ligation-dependent probe amplification (MLPA) of the PRSS1 gene.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Regulatory region variants and deep intronic variants will not be detected. The breakpoints of large deletions/duplications will not be determined. Variants in genes other than PRSS1 are not evaluated.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History

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Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
08/19/2019
X
N/A
CPT Codes

81404; 81479

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Components
Component Test Code* Component Chart Name LOINC
3001769 PRSS1 FGA Spcm 31208-2
3001770 PRSS1 FGA Interp 21692-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • hereditary pancreatitis
  • Idiopathic pancreatitis molecular sequencing
  • PANC PANEL
  • PRSS1
Pancreatitis (PRSS1) Sequencing and Deletion/Duplication