Pancreatitis (SPINK1) Sequencing
2002012
Ordering Recommendation
For adults with idiopathic pancreatitis if other components of panel  (CFTR, CTRC, and PRSS1 sequencing) have been sequenced without providing a complete explanation for the pancreatitis.
Mnemonic
SPINK1 FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
Within 14 days  
New York DOH Approval Status
This test is New York DOH approved.
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 (SPINK1) Sequencing:
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.





See Compliance Statement C: www.aruplab.com/CS
Statement C: 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.
 
Note
 
CPT Code(s)
81404
Components
Component Test Code*Component Chart NameLOINC
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, please click the sidebar link to access the Interface Map.
Aliases
  • Idiopathic pancreatitis molecular sequencing
  • SPINK1 sequencing