- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics of Pancreatitis: Inflammation of the pancreas resulting in abdominal pain, fever, nausea and vomiting with no obvious environmental trigger (i.e. chronic alcohol exposure, gallstones, abdominal trauma, medications, infections and tumors).
Incidence of Pancreatitis: Approximately 1 in 50,000.
Inheritance: Autosomal recessive when caused by two deleterious SPINK1 mutations.
Cause: Pathogenic mutations in SPINK1, CFTR,CTRC and PRSS1.
Gene tested:SPINK1 only.
Clinical Sensitivity: Approximately 17 percent of patients with 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: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in CTRC, CFTR and PRSS1 will not be detected.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2002013||SPINK1 FGS Specimen|
|2002014||SPINK1 Sequencing Interpretation|
- Idiopathic pancreatitis molecular sequencing
- SPINK1 sequencing