Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Genetic Testing via Mutation Analysis (Qualitative)
This test checks for specific genetic mutations linked to cystic fibrosis (CF) by analyzing a sample of your DNA.
["Helps determine if you may carry or have cystic fibrosis-related mutations."]
Key facts at a glance
- LOINC
- 38447-9
- Short code
- CFTR711
- Synonyms
- CFTR c.711+1G>T Bld/T Ql
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender/purple-top) blood collection 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
- 81223
- SNOMED
- 5304004
- Specimen volume
- Whole blood: 3-5 mL (minimum 1 mL). Tissue: small biopsy sample in sterile saline or transport medium
- Stability
- Whole blood: Stable at room temperature (15-25°C) for 24-48 hours; refrigerated (2-8°C) for up to 1 week. Tissue: Stable refrigerated for 24 hours or frozen at -20°C for longer storage. DNA extracted from specimen stable at -20°C for prolonged periods.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 72–336 hours
- Order
- routine
What Is Cystic Fibrosis?
Cystic fibrosis is a genetic disorder that affects the lungs, digestive system, and other organs. It often causes thick, sticky mucus to build up in these areas, leading to breathing problems, digestive issues, and other health challenges. This test specifically looks for mutations in the CFTR gene, which can cause CF or related conditions.
How Is the Test Performed?
The test involves collecting a blood sample (whole blood) or saliva sample. DNA is extracted from the sample and analyzed for known CFTR mutations. Results indicate whether certain mutations are present in your DNA.
Why Might You Need This Test?
Doctors may recommend this test if you have symptoms of CF, a family history of CF, or if you’re considering pregnancy and have a partner with a known CF mutation. It can also be used for newborn screening in some cases.
What Do the Results Mean?
Results are qualitative and identify whether specific CFTR mutations are detected. Positive results mean those mutations are present in your DNA, which may influence diagnosis, treatment planning, or genetic counseling.
Reference range
Negative: c.711+1G>T variant not detected. Positive: c.711+1G>T variant detected (heterozygous or homozygous). Results reported as Detected or Not DetectedN/A
No fasting required. Patient should be informed that genetic testing results may have implications for family members. Informed consent for genetic testing is recommended per institutional policy. Provide complete family history and clinical indication for testing.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CFTR Gene Mutation Test
Frequently asked questions
What does a positive result mean on this test?
How long does it take to get results from this test?
Can this test be used for newborn screening?
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