Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Analysis by Next-Generation Sequencing (NGS) with Targeted Panel
This test checks for specific genetic mutations linked to cystic fibrosis, a condition affecting the lungs, digestive system, and other organs. It helps determine if you may carry or have cystic fibrosis.
["Identifying CFTR mutations can guide diagnosis and treatment planning for cystic fibrosis or related genetic conditions."]
Key facts at a glance
- LOINC
- 78382-9
- Short code
- CFTRMUT
- Synonyms
- CFTR Mut Anl Bld/T MS.MALDI-TOF Nom
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender-top) blood collection tube; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 0–120 years
- Method
- ms-maldi-tof
- CPT
- 81220
- SNOMED
- 760711003
- Specimen volume
- 3-5 mL whole blood; 5-10 mg tissue minimum
- Stability
- Whole blood: Room temperature 1 week; Refrigerated (2-8°C) 1 month; Frozen (-20°C or below) 1 year. Tissue: Refrigerated 24 hours; Frozen (-70°C) indefinitely.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 72–336 hours
- Order
- routine
What This Test Measures
The test analyzes DNA from a blood sample to detect variations (mutations) in the CFTR gene. These mutations can cause cystic fibrosis by disrupting the function of proteins that regulate salt and water balance in cells, particularly in the lungs and digestive tract.
Why It’s Done
Doctors 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’s also used in newborn screening programs in some regions.
Sample Collection and Processing
A blood sample is drawn from your arm. The blood is processed to extract DNA, which is then analyzed using advanced sequencing technology to identify known CFTR mutations.
What to Expect Before the Test
No special preparation is needed for this test. However, if you’re pregnant or planning a pregnancy, discuss the test with your healthcare provider to ensure it’s appropriate for your situation.
Reference range
No CFTR mutations detected (negative for tested panel). Reference result varies by specific mutation panel; refer to laboratory report for specific mutations screened.N/A
No special patient preparation required. Genetic counseling recommended before and after testing. Informed consent may be required per institutional policy.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
This test plays a critical role in diagnosing cystic fibrosis by confirming or ruling out genetic mutations associated with the disease. Early detection can lead to timely interventions, including specialized diets, respiratory treatments, and enzyme replacements to manage symptoms and improve quality of life.
Short name
CFTR Mutation Test
Frequently asked questions
What does a positive result mean?
How long does it take to get results?
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