Pancreatitis: Three-gene Profile (PRSS1, SPINK1, CFTR) (Full Gene Sequencing)
Use
This test is used for the full sequencing of the PRSS1, SPINK1, and CFTR genes to detect known variants associated with chronic pancreatitis. It involves sequencing all coding regions of these genes, including flanking intronic nucleotides and conserved splice sites, as well as UTR regions. This is typically conducted to support a diagnosis or assess risk in individuals suspected of having hereditary pancreatitis conditions or related syndromes.
Special Instructions
Informed consent for genetic testing is recommended. DNA samples can be used if collected appropriately. Ensure samples are shipped at room temperature and prepared correctly according to guidelines to avoid rejection and to maintain specimen integrity.
Limitations
The test is unable to reliably detect mosaic variants, large deletions, large duplications, deep intronic variants, and certain rearrangements. Factors such as allele dropout and the inability to detect the exact number of microsatellite repeats may impede certain analyses. Diagnosis based on this test should be clinically correlated due to its analytical limitations.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 57931-8
- 57931-8
Result Turnaround Time
28-35 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant