Pancreatitis panel

Pancreatitis is characterized by recurring inflammatory attacks that gradually cause irreversible damage to the pancreas and surrounding tissue. Risk factors range from environmental to genetic. Understanding genetic risk for pancreatitis can help alter lifestyle choices, plan appropriate management, and offer risk assessment in family members.
Quick Reference
Test Code 8022
Turnaround Time (TAT) 2-4 weeks
Number of Genes 6

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Exome and SNP Array tests

When To Consider Testing

  • Recurrent unexplained attacks of acute pancreatitis and a positive family history
  • Unexplained chronic pancreatitis and a positive family history
  • Hereditary hyperthyroidism and autoimmune pancreatitis
  • Unexplained acute pancreatitis episodes in children
  • At-risk family members, including children in families with early-onset symptoms

Mutation Detection Rate

 About 48% of people with unexplained or hereditary CP will have a mutation in at least one of the six genes included (clinical sensitivity). 

Test Description

Our Pancreatitis panel includes next generation sequencing (NGS) of CPA1, CASRPRSS1, SPINK1, CTRC, and CFTR.  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology using long biotinylated oligonucleotide probes, followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Additional Sanger sequencing is performed for any regions missing, or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions.

 

 

1.Mason E, et al.  A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: Data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.  PLoS One. 2013 Aug 8;8(8):e73522. 

2. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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