Ordering Recommendation

For adults with idiopathic pancreatitis if other components of panel (CFTR, CTRC, PRSS1 sequencing) have been sequenced without providing a complete explanation for the pancreatitis.

Mnemonic
SPINK1 FGS
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Varies

Reported

7-14 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.

Compliance Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81404

Components
Component Test Code* Component Chart Name LOINC
2002013 SPINK1 FGS Specimen
2002014 SPINK1 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
Pancreatitis (SPINK1) Sequencing