| 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
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| CPT Code(s): |
81479
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