The Invitae Chronic Pancreatitis Panel analyzes five genes that are associated with an increased risk of chronic pancreatitis (CP), a condition that results in irreversible morphological changes and impairment of both exocrine and endocrine functions. These genes were selected based on the available evidence to date to provide Invitae’s most comprehensive test for chronic pancreatitis.
Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives.
CASR CFTR CTRC PRSS1 SPINK1
CASR CFTR CTRC PRSS1 SPINK1
The pancreas is responsible for synthesizing enzymes for protein, fat, and carbohydrate digestion in the intestines and for producing insulin and glucagon for maintaining blood-sugar balance. Chronic pancreatitis is a progressive inflammatory disorder in which overly active digestive enzymes destroy the pancreatic secretory cells. The primary features of chronic pancreatitis include intractable pain and maldigestion, followed by diabetes mellitus and malnutrition with advancing disease.
Alcoholism is the leading cause of chronic pancreatitis and accounts for approximately 50% of all cases worldwide. Approximately 10% of cases with alcoholic chronic pancreatitis (ACP) have been found to have a pathogenic variant in one of these genes, and pathogenic variants in these genes have been identified in approximately 90% of individuals with idiopathic (previously unexplained) chronic pancreatitis (ICP).
The inheritance pattern of chronic pancreatitis varies by gene:
CFTR is also known to cause autosomal recessive cystic fibrosis (CF) and congenital bilateral absence of vas deferens (CBAVD).
The prevalence of chronic pancreatitis is ~1 in 4,000 on average, with considerably higher rates (~1 in 1000) in southern India.
Testing for chronic pancreatitis may be considered in any individual with a personal and/or family history of:
Consensus recommendations on medical management have been proposed:
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|
CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TGT (also known as T5TG12), c.1210-34TGT (also known as T5TG11), and c.1679+1634A>G.