Ordering Recommendation

This is a second tier test and REQUIRES PERMISSION from ARUP's Genetic Counselor (800-242-2787, x2141) before ordering. Preferred initial test is the sequencing test.

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.
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 recessive and possibly digenic.
Penetrance
: Variable.
Cause
: Pathogenic variants in SPINK1, PRSS1, CFTR, CASR, CTRC, CPA1 and CLDN2 genes are associated with pancreatitis.
Clinical Sensitivity
: Percentage of large deletions/duplications in SPINK1 causative for pancreatitis is unknown.
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 Category

Laboratory Developed Test (LDT)

Note
Hotline History
N/A
CPT Codes

81479

Components
Component Test Code* Component Chart Name LOINC
3001765 Pancreatitis (SPINK1) DelDup Specimen 31208-2
3001766 Pancreatitis (SPINK1) DelDup Interp 41051-4
* 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
Pancreatitis (SPINK1) Deletion/Duplication