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Test Name:
Pancreatitis, Idiopathic (SPINK1) Sequencing
- SBMF No:
44992 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
SPINK1 FGS - ABN:
Required – Not FDA-Approved - CPT Code:
83891; 83898x4; 83904x4; 83909; 83912 - Ref Lab Test No:
2002012 - Also See:
44990 Pancreatitis, Idiopathic (CFTR, PRSS1, SPINK1) Sequencing - 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:
1.0 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 (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 of Idiopathic Pancreatitis: Approximately 1 in 50,000.
Inheritance: Autosomal recessive when caused by two deleterious SPINK1 mutations.
Cause: Deleterious mutations in SPINK1, CFTR and PRSS1.
Gene tested: SPINK1 only.
Clinical Sensitivity: Approximately 17 percent of patients with idiopathic pancreatitis will have at least one SPINK1 mutation.
Methodology: Bidirectional sequencing of the entire coding region and intron-exon boundaries of the SPINK1 gene.
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. Mutations in CFTR and PRSS1 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 15 days - Test Type:
GENETIC
