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Test Name:
Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing
- SBMF No:
44990 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
IP SEQ PAN - ABN:
Required – Not FDA-Approved - CPT Code:
83891; 83898x41; 83904x41; 83909x2; 83912 - LOINC Code:
19146-0; 19146-0; 19146-0; 19146-0; 19146-0 - Ref Lab Test No:
2002005 - Spec Type:
Whole blood - Spec Container:
Lavender top (EDTA) or pale yellow top (ACD-A or B) tube - Pref Vol:
3.0 mL - Min Vol:
2.0 mL - Fasting:
No - Patient Prep:
Counseling and informed consent are recommended for genetic testing
Forms required:
Informed Consent for Molecular Genetic Testing
Patient History for Pancreatitis Testing - Spec Collect:
Routine venipuncture - Spec Process:
Gently invert tube to mix blood with the anticoagulant
Do not centrifuge
Do not remove plasma from cells
Forward entire tube of unprocessed whole blood to the laboratory - Spec Store Transport:
Refrigerated - Spec Stability:
3 days room temperature (20-30°C)
1 week refrigerated (2-8°C)
Frozen (-20°C): Unacceptable - Spec Reject:
Frozen sample - Methodology:
Polymerase Chain Reaction (PCR)
Sequencing - Clinical Significance:
Refer to:
- Reference Range:
By report
Interpretive Data:
Background Information for Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing:
Characteristics of Idiopathic Pancreatitis: Inflammation of the pancreas resulting in abdominal pain, fever, nausea and vomiting with no obvious environmental trigger (ie. chronic alcohol exposure, gallstones, abdominal trauma, medications, infections and tumors).
Incidence: Approximately 1 in 50,000.
Inheritance: Autosomal dominant for PRSS1; autosomal recessive for CFTR and SPINK1.
Cause: One deleterious PRSS1 mutation, two CFTR mutations; possibly two SPINK1 mutations, or one PRSS1 and one CFTR mutation.
Clinical Sensitivity: Approximately 45 percent of idiopathic pancreatitis cases have at least one mutation in CFTR, PRSS1, or SPINK1. An estimated 80 percent of hereditary pancreatitis is due to PRSS1 gene mutations.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the CFTR, PRSS1 and SPINK1 genes.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Rare diagnostic errors can occur due to primer site mutations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. - Additional Test Info:
Genetic Compliance Statement:
The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
- Day Run:
Varies - Time Reported:
Within 36 days - Test Type:
GENETIC
