Invitae Chronic Pancreatitis Panel
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).
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)