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Pancreatitis (SPINK1) Deletion/Duplication
3001764
Ordering Recommendation

Appropriate test for adults with idiopathic pancreatitis when previous full gene sequencing of SPINK1 has been performed and is negative or detects one variant or if other components of the pancreatitis panel (CTRC, CFTR, and PRSS1 genes) have been sequenced without providing a complete explanation for the pancreatitis.

Mnemonic
SPINK1 DD
Methodology
Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
12-14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL) 
Storage/Transport Temperature
Refrigerated. 
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months 
Reference Interval
By Report
Interpretive Data
Background Information for Pancreatitis (SPINK1) Deletion/Duplication:
Characteristics
: Hereditary pancreatitis typically presents with recurrent episodes of pancreatic inflammation, abdominal pain, nausea, and vomiting. Ultimately, this evolves into chronic pancreatitis resulting in permanent pancreatic damage.
Epidemiology: Incidence of chronic pancreatitis is 5-12 in 100,000 per year and prevalence is approximately 50 in 100,000.
Inheritance of SPINK1-related pancreatitis: Autosomal dominant.
Penetrance: Variable.
Cause: Pathogenic variants in SPINK1, PRSS1, CFTR, CASR, CTRC, CPA1 and CLDN2 genes are associated with pancreatitis.
Clinical Sensitivity: 6 percent of hereditary pancreatitis is caused by pathogenic SPINK1 copy number variants.
Methodology: Multiplex ligation-dependent probe amplification (MLPA)
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region and deep intronic variants will not be detected. Deletion/duplication breakpoints will not be determined. Variants in genes other than SPINK1 will not be detected.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
View Hotline History
Components
Component Test Code*Component Chart NameLOINC
3001765Pancreatitis (SPINK1) DelDup Specimen31208-2
3001766Pancreatitis (SPINK1) DelDup Interp41051-4
* 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
  • hereditary pancreatitis
  • Idiopathic pancreatitis, SPINK1
  • PANC PANEL