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Pancreatitis (PRSS1) Deletion/Duplication
3001760
Ordering Recommendation

Second-tier test when previous full gene sequencing of PRSS1 has been performed and is negative in individuals with idiopathic pancreatitis <20 years of age and/or two affected first-degree relatives. Appropriate test to order with PRSS1 full gene sequencing for most comprehensive coverage of PRSS1 gene.

Mnemonic
PRSS1 DD
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
12-14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
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
By Report
Interpretive Data
Interpretive Data:
Background Information for Pancreatitis (PRSS1) Deletion/Duplication:
Characteristics
: Hereditary pancreatitis typically presents in late childhood with recurrent episodes of pancreatic inflammation, abdominal pain, nausea, and vomiting. Ultimately, this evolves into chronic pancreatitis resulting in permanent pancreatic damage.
Epidemiology: Incidence of chronic pancreatitis is 5-12 in 100,000 per year and prevalence is approximately 50 in 100,000.
Inheritance of SPINK1-related pancreatitis: Autosomal recessive and possibly digenic.
Penetrance: Variable.
Cause: Pathogenic variants in PRSS1, SPINK1, CFTR, CASR, CTRC, CPA1 and CLDN2 genes are associated with pancreatitis.
Clinical Sensitivity: Unknown.
Methodology: 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. Single base pair substitutions, small deletions/duplications, regulatory region and deep intronic variants will not be detected. Deletion/duplication breakpoints will not be determined. Variants in genes other than PRSS1 will not be detected.

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
View Hotline History
Components
Component Test Code*Component Chart NameLOINC
3001761Pancreatitis (PRSS1) DelDup Specimen31208-2
3001762Pancreatitis (PRSS1) DelDup Interp21692-9
* 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, PRSS1
  • PANC PANEL