Genetic Analysis for CFTR, PRSS1, and SPINK1 Mutations (Blood Sample)
This test checks for mutations in three genes—CFTR, PRSS1, and SPINK1—that may be linked to certain genetic conditions affecting digestion, pancreas function, or digestive enzymes.
["Helps identify inherited gene changes that could influence health risks or treatment options."]
Key facts at a glance
- LOINC
- 57931-8
- Short code
- CFTRPRSS1SPINK1
- Synonyms
- CFTR+PRSS1+SPINK1 gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender/purple-top) tube for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 81222
- SNOMED
- 444932008
- Specimen volume
- 3-5 mL whole blood in EDTA tube; minimum 1 mL for pediatric samples; fresh or frozen tissue in sterile container
- Stability
- Whole blood: stable for 7 days at 2-8°C; long-term storage at -20°C or below for DNA extraction. Tissue: stable for 24 hours at room temperature in saline; store at -80°C for long-term preservation. Extracted DNA: stable for years at -20°C.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–720 hours
- Order
- routine
What This Test Measures
The test examines DNA variations (mutations) in the CFTR, PRSS1, and SPINK1 genes. These genes play roles in digestive health, pancreatic function, and enzyme production. Mutations in these genes can cause conditions like chronic pancreatitis, cystic fibrosis, or other digestive disorders.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms of digestive issues (e.g., chronic pancreatitis, unexplained weight loss, or pancreatic enzyme deficiencies) or if you have a family history of related genetic conditions.
Sample Collection and Process
A blood sample is drawn to collect DNA for analysis. The lab processes the sample to identify specific genetic changes in the genes mentioned. Results are reported as either present or absent for each mutation, depending on the testing method.
What the Results Mean
Results indicate whether the tested mutations are present in your DNA. Positive findings may suggest an increased risk for certain genetic conditions, but additional testing or clinical correlation may be needed for diagnosis.
Reference range
No pathogenic mutations detected in the CFTR, PRSS1, or SPINK1 genes analyzed. Results are reported as mutation identified or not identified for each gene tested. Consult the laboratory report for specific variant nomenclature (HGVS nomenclature) and clinical interpretation.N/A
No fasting required. Patient should provide informed consent for genetic testing. A detailed family history of pancreatitis, cystic fibrosis, or related pancreatic disorders is recommended. Genetic counseling prior to and following testing is strongly advised.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying these mutations can help guide diagnosis, treatment planning, or genetic counseling. For example, mutations in CFTR are strongly linked to cystic fibrosis, while PRSS1 and SPINK1 mutations may relate to pancreatitis or digestive enzyme deficiencies. Early detection can inform personalized care strategies.
Short name
Genetic Testing for Specific Gene Mutations
Frequently asked questions
Will this test show all possible mutations in these genes?
How long will it take to get results?
Can this test be done on saliva instead of blood?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy