Pancreatitis: PRSS1 (Full Gene Sequencing)
Use
The test is designed to detect pathogenic mutations in the PRSS1 gene associated with pancreatitis. It covers all coding nucleotides of the PRSS1 gene, including intronic nucleotides and splice sites. The results aid in confirming the genetic predisposition to pancreatitis and may inform patient management decisions.
Special Instructions
If a known mutation is documented, it may be preferable to order the test variant with code 252777. DNA is accepted, but specific collection instructions should be followed by contacting the provided number.
Limitations
This test cannot reliably detect mosaic variants, large deletions, large duplications, inversions, rearrangements, or deep intronic variants. It may be affected by allele-dropout and does not account for T/A or microsatellite repeat numbers. Additionally, it may not determine whether heterozygous variants occur on the same or different chromosomes. Results interpretation may require correlation with clinical findings and additional genetic counseling.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 21692-9
- 21692-9
Result Turnaround Time
18-35 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