Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation Analysis (Quantitative Allele Detection)
This test checks for specific genetic changes in the CFTR gene, which can cause cystic fibrosis or related conditions. It helps determine if you carry mutations linked to these disorders.
["This test identifies genetic variations that may influence health risks related to cystic fibrosis or other related conditions."]
Key facts at a glance
- LOINC
- 42939-9
- Short code
- CFTR2
- Synonyms
- CFTR allele 2 Bld/T Ql
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender/purple-top) tube for whole blood; sterile container for tissue samples. DNA extraction requires appropriate anticoagulated whole blood or fresh/frozen tissue.
- Units
- N/A
- Ref low
- 20
- Ref high
- 400
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 81220
- SNOMED
- 5306005
- Specimen volume
- 3-5 mL whole blood in EDTA tube; 5-10 mg tissue sample
- Stability
- Whole blood stable at room temperature (15-25°C) for 24 hours or refrigerated (2-8°C) for up to 1 week. For longer storage, extract DNA and store at -20°C or -80°C. Tissue samples should be frozen at -80°C or processed immediately.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 72–336 hours
- Order
- routine
Why This Test 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 for prenatal screening or carrier testing in certain situations.
How the Test Works
The test involves analyzing a small sample of your blood to detect specific DNA sequences in the CFTR gene. Advanced laboratory techniques identify whether certain mutations are present, helping to confirm or rule out cystic fibrosis-related genetic changes.
Sample Collection and Preparation
A blood sample is typically drawn from a vein in your arm. The blood is processed to extract DNA for analysis. This process is usually quick and done in a clinical setting.
What to Expect Before the Test
No special preparation is usually needed for this test, but you may be asked to avoid certain medications or supplements that could interfere with results. Always follow your healthcare provider’s instructions.
Reference range
Premenopausal: 20-400 pg/mL; Postmenopausal: <30 pg/mLN/A
No special patient preparation required. Genetic counseling is recommended before and after testing. Informed consent may be required per institutional policy. Patient should be informed that results may have implications for family members.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CFTR Mutation Testing
Frequently asked questions
What does a positive result mean?
What if my test results are negative?
How often should I get this test?
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