Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Full Mutation Analysis by Whole Blood DNA Sequencing
This test checks for mutations in the CFTR gene using DNA from your blood. It helps identify genetic variations linked to cystic fibrosis, a condition affecting lungs and digestive systems.
["This test helps determine if you carry mutations associated with cystic fibrosis, guiding potential treatment and management plans."]
Key facts at a glance
- LOINC
- 90256-9
- Short code
- CFTRSEQ
- Synonyms
- CFTR Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender-top) tube for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- sequencing
- CPT
- 81223
- SNOMED
- 444931000124109
- Specimen volume
- 3-5 mL whole blood in EDTA tube; 5-10 mg fresh tissue or 1-2 mL bone marrow
- Stability
- Whole blood: Room temperature 3 days, refrigerated (2-8°C) 7 days, frozen (-20°C) 1 year. Tissue: Room temperature 24 hours, refrigerated 48 hours; for longer storage freeze at -80°C. DNA extracted: stable at -20°C for prolonged periods.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 336–720 hours
- Order
- routine
What This Test Measures
The CFTR gene provides instructions for making a protein that regulates salt and water movement in cells. Mutations in this gene can disrupt normal function, leading to cystic fibrosis. This test analyzes your blood DNA to identify specific changes (mutations) in the CFTR gene that may be inherited or present in your cells.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms of cystic fibrosis, a family history of the condition, or if you’re considering genetic counseling. It can also be used during prenatal testing or newborn screening in some cases.
Sample Collection and Process
A blood sample is taken from your arm. The DNA is extracted from your white blood cells and analyzed for known CFTR gene mutations using advanced sequencing technology to detect variations.
Interpretation and Next Steps
Results may show whether you have inherited mutations linked to cystic fibrosis. If mutations are found, further evaluation by a genetic counselor or specialist may be needed to discuss implications for health, treatment options, or family planning.
Reference range
No pathogenic mutations detected (wild-type sequence); reference sequence based on NM_000492.4 (CFTR). Interpretation provided as positive, negative, or variant of uncertain significance (VUS) for known CFTR mutations.N/A
No fasting required. Genetic counseling recommended before and after testing. Patient should provide informed consent for genetic testing. A detailed family history and ethnicity information should be documented.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CFTR Gene Mutation Test
Frequently asked questions
How long will it take to get my results?
What if my test shows mutations linked to cystic fibrosis?
Can this test be used during pregnancy?
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