Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Analysis (Genetic Test)
This test checks for specific genetic mutations linked to cystic fibrosis (CF), a condition that affects the lungs and digestive system. It helps determine if you carry these mutations, which may influence your risk for developing CF or other related health concerns.
["This genetic test identifies mutations in the CFTR gene that may cause cystic fibrosis or related disorders."]
Key facts at a glance
- LOINC
- 34718-7
- Short code
- CFTR Mut Anl Amn
- Synonyms
- CFTR Mut Anl Amn
- Category
- chemistry
- Sample
- fluid
- Container
- Sterile tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 2-5 mL
- Stability
- Room temperature: 2h, Refrigerated: 24h
- Hemolysis max
- 300
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms of cystic fibrosis (such as chronic lung infections, digestive issues, or salt loss), a family history of CF, or if you’re considering pregnancy and have a known CF mutation in your family. It can also be used for newborn screening in some regions or to confirm a suspected diagnosis.
What to Expect Before the Test
No special preparation is needed for this test. A small blood sample (from a fingerstick) or saliva sample may be collected for genetic analysis. If testing is part of newborn screening, it’s typically done shortly after birth via a heel prick.
What the Test Results Mean
Results can show whether you carry one or both copies of a known CFTR mutation. If you have two mutations, it strongly suggests a diagnosis of cystic fibrosis. If only one mutation is found, it may indicate a carrier status or a different genetic condition. Results are interpreted by a healthcare provider based on your medical history and symptoms.
Common Conditions This Test Helps Diagnose
This test primarily helps diagnose cystic fibrosis by identifying mutations in the CFTR gene. It may also be used to screen for other genetic conditions that affect chloride transport or digestive health, depending on the specific mutations detected.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying CFTR mutations is critical for managing cystic fibrosis. If you have two known mutations, early diagnosis allows for timely treatment, such as pancreatic enzyme supplements, respiratory therapies, or specialized diets. If you’re a carrier, knowing your status can help with family planning and genetic counseling. Some mutations may also be linked to other conditions like intestinal pseudo-obstruction or certain pancreatic disorders.
Short name
CFTR Mutation Test
Frequently asked questions
What does a positive test result mean?
How often should I get 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