This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing and deletion/duplication test.
Multiplex Ligation-dependent Probe Amplification
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
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 PRSS1-related pancreatitis: Autosomal dominant.
Cause: Pathogenic variants in PRSS1, SPINK1, CFTR, CASR, CTRC, CPA1 and CLDN2 genes are associated with pancreatitis.
Clinical Sensitivity: 6 percent of hereditary pancreatitis is caused by pathogenic PRSS1 copy number variants.
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
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|3001761||Pancreatitis (PRSS1) DelDup Specimen||31208-2|
|3001762||Pancreatitis (PRSS1) DelDup Interp||21692-9|
- hereditary pancreatitis
- Idiopathic pancreatitis, PRSS1
- PANC PANEL