Pancreatitis, Idiopathic (SPINK1) Sequencing
2002012
 
Ordering Recommendation
Diagnostic testing for hereditary pancreatitis.
Mnemonic
SPINK1 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
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:
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 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
Note
CPT Code(s)
81404
Components
Component Test Code*Component Chart Name
2002013SPINK1 FGS Specimen
2002014SPINK1 Sequencing Interpretation
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References