Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation Analysis – Blood DNA (Duplication Deletion)
This test checks for genetic changes in the CFTR gene that may cause cystic fibrosis or related conditions by examining DNA from your blood.
["Helps identify inherited genetic variations linked to cystic fibrosis risk or diagnosis."]
Key facts at a glance
- LOINC
- 69480-2
- Short code
- CFTR-MLPA
- Synonyms
- CFTR Del+Dup Bld/T MLPA
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA tube (lavender top) for whole blood; sterile container for tissue
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 0–120 years
- Method
- Multiplex Ligation-Dependent Probe Amplification (MLPA)
- CPT
- 81222
- SNOMED
- 76044-3
- Specimen volume
- 3-5 mL whole blood or tissue sample
- Stability
- Whole blood stable for 5 days at 2-8°C; tissue stable for 24 hours at room temperature in transport medium
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–720 hours
- Order
- routine
What This Test Measures
The test looks for specific deletions or duplications in the CFTR gene, which are common mutations associated with cystic fibrosis. These changes can affect how your body processes certain salts and fluids, potentially leading to health issues like respiratory problems or digestive disorders.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms of cystic fibrosis (e.g., chronic lung infections, poor weight gain, or digestive problems), a family history of cystic fibrosis, or if you’re considering genetic counseling or prenatal testing.
Sample and Process
A blood sample is drawn to collect DNA. The DNA is then analyzed for the presence of known CFTR gene mutations, often using advanced genetic sequencing techniques.
What to Expect Before the Test
No special preparation is needed, but you may be asked to avoid certain medications that could interfere with results. Bring a list of all medications or supplements you take.
Reference range
No CFTR gene deletions or duplications detected. Two copies of the CFTR gene present.N/A
No fasting required. Informed consent may be required for genetic testing. Genetic counseling recommended prior to and following testing.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CFTR Mutation Analysis (Blood)
Frequently asked questions
How long will results take?
What does a positive result mean?
Can lifestyle changes affect 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