Genetic mutation analysis for cystic fibrosis transmembrane conductance regulator (CFTR) gene
This test checks for mutations in the CFTR gene, which can cause cystic fibrosis, a genetic condition affecting lungs, digestive system, and other organs.
["This test helps diagnose cystic fibrosis and guides treatment options based on genetic findings."]
Key facts at a glance
- LOINC
- 53847-0
- Short code
- CACT
- Synonyms
- CACT gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (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
- 81405
- SNOMED
- 444975005
- Specimen volume
- 3-5 mL whole blood in EDTA tube; 5-10 mg tissue in sterile container
- Stability
- Whole blood: stable at room temperature for 24 hours, refrigerated (2-8°C) for 1 week, frozen (-20°C or below) for long-term storage. Tissue: refrigerated for 24 hours or frozen at -80°C for extended storage.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 336–720 hours
- Order
- routine
Why This Test Is Done
Doctors may recommend this test if you or your child have symptoms of cystic fibrosis, such as chronic lung infections, poor weight gain, or digestive issues. It’s also used for prenatal screening or carrier testing in families with a history of cystic fibrosis.
How the Test Works
A small blood sample is taken to analyze DNA from your cells. The lab checks for known mutations in the CFTR gene that are linked to cystic fibrosis. Some mutations are more common in certain populations.
Sample Collection and Preparation
You’ll have a simple blood draw, usually done by a healthcare provider in a clinic or lab. The sample is processed and sent to a specialized lab for genetic testing.
What to Expect After the Test
Results may take several weeks, depending on lab processing and genetic analysis. Your healthcare provider will explain the findings and next steps, such as further testing or treatment planning.
Reference range
No mutations detected in the CACT gene. Presence of pathogenic variants may indicate Carnitine-Acylcarnitine Translocase (CACT) deficiency.N/A
No special patient preparation required. For newborn screening follow-up or prenatal diagnosis, genetic counseling is recommended prior to specimen collection.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CFTR Gene Mutation Test
Frequently asked questions
Identifying CFTR mutations helps confirm a cystic fibrosis diagnosis, especially in newborns or those with unclear symptoms. It also informs decisions about prenatal testing, carrier screening, or genetic counseling for family members.
Results typically take 2 to 4 weeks, as genetic testing involves detailed DNA analysis. Your provider will contact you once results are available.
No, this test checks for specific known mutations. Some mutations may not be covered, so further genetic testing might be needed if results are unclear.
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