Invitae Chronic Pancreatitis Panel

Casandra

Casandra Test Code IN01745Version 1 (DRAFT)

Performing Lab

Lab Invitae CorporationLab Test ID 01745

Invitae Chronic Pancreatitis Panel

Clinical Use

Use

The Invitae Chronic Pancreatitis Panel analyzes genes associated with pancreatitis (CP), a condition that results in irreversible morphological changes and impairment of pancreatic functions. Genetic testing of these genes can confirm a diagnosis and guide treatment and management decisions. Identifying a disease-causing variant may also help in testing and diagnosing at-risk relatives, considering the clinical heterogeneity of chronic pancreatitis. Hereditary pancreatitis is typically inherited in an autosomal dominant manner, and individuals with a pathogenic variant in an associated gene have an increased risk for chronic pancreatitis, particularly with other genetic/environmental risk factors.

Special Instructions

The test utilizes next-generation sequencing technology to perform full-gene sequencing and deletion/duplication analysis. The sequence analysis covers clinically important regions of each gene, including coding exons and adjacent intronic sequences. It is advised to consult the test definition on the website for more details regarding regions or types of variants that are covered or excluded for this test.

Limitations

The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length. Insertions and deletions larger than 15bp but smaller than a full exon may have marginally reduced sensitivity. Certain variants like structural rearrangements or those in complex sequences may not be detected. Sequence changes in promoter, non-coding exons, and regions not explicitly guaranteed are not covered. DNA analyzed may not represent the patient's constitutional genome in rare cases (e.g., recent blood transfusion).

Test Details

New York Approved