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.
Multiplex Ligation-dependent Probe Amplification
Lavender (K2EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 2 mL)
Ambient: 1 week; Refrigerated: 1 month; Frozen: 6 months
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.
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 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.
|Component Test Code*||Component Chart Name||LOINC|
|3001765||Pancreatitis (SPINK1) DelDup Specimen||31208-2|
|3001766||Pancreatitis (SPINK1) DelDup Interp||41051-4|
- hereditary pancreatitis
- Idiopathic pancreatitis, SPINK1
- PANC PANEL