Pancreatitis Panel (CFTR, CTRC, PRSS1, SPINK1), Sequencing
Also known as: PANC NGS
Use
This test is used for individuals with a personal history of idiopathic pancreatitis. It detects sequence variants in the CFTR, CTRC, PRSS1, and SPINK1 genes, which are associated with idiopathic pancreatitis. Genetic testing can help determine a genetic cause or assess the risk of hereditary or idiopathic acute or chronic pancreatitis in family members. Chronic pancreatitis affects approximately 4-12 per 100,000 individuals per year and can lead to permanent damage to pancreatic structure and function.
Special Instructions
Not provided.
Limitations
A negative result does not exclude a heritable form of pancreatitis. The test detects variants within coding regions and exon-intron boundaries of the targeted genes, but deletions/duplications/inserts may not be detected by massively parallel sequencing. It does not identify regulatory region variants, deep intronic variants, or large deletions/duplications. Some variants might not be identified due to technical limitations from pseudogenes or homologous regions. It is not intended for low-level mosaic or somatic variants, gene conversion events, inversions, translocations, mtDNA mutations, or repeat expansions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant