CFTR Mutation Analysis by Next-Generation Sequencing (DNA)
This test checks for mutations in the CFTR gene, which can cause cystic fibrosis (CF) or other related conditions by examining DNA from a blood sample.
["Helps diagnose or confirm genetic conditions linked to CFTR gene changes."]
Key facts at a glance
- LOINC
- 54083-1
- Short code
- CFTRDBS
- Synonyms
- CFTR Mut Anl DBS
- Category
- chemistry
- Sample
- serum
- Container
- Dried blood spot (DBS) collection card (e.g., Whatman 903 filter paper or Guthrie card). Specimen should be fully dried before transport.
- Units
- N/A
- Ref low
- 1717
- Ref high
- 1
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 0–999 years
- Method
- molgen
- CPT
- 81220
- SNOMED
- 44474009
- Specimen volume
- Minimum 3-5 dried blood spots (approximately 50-75 μL whole blood per spot) on filter paper card
- Stability
- Dried blood spots stable at room temperature (15-25°C) for up to 30 days; refrigerated (2-8°C) storage acceptable for extended periods. Avoid excessive heat, humidity, and direct sunlight.
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 48–336 hours
- Order
- routine
What Is the Purpose of This Test?
Doctors may order 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 genetic counseling. It helps determine if you carry mutations linked to CF or related disorders.
How Is the Sample Collected?
A small blood sample is drawn from your arm, similar to a regular blood test. The DNA from your blood cells is then analyzed for specific mutations in the CFTR gene.
What Does the Test Result Mean?
Results can identify whether you have known pathogenic mutations associated with cystic fibrosis or other genetic conditions. Some mutations may be classified as likely harmful, uncertain, or benign, depending on scientific evidence.
Common Conditions This Test Helps Diagnose
This test is primarily used to diagnose cystic fibrosis (CF) or screen for genetic variants linked to conditions like congenital bilateral absence of the vas deferens (CBAVD) or certain forms of male infertility.
Reference range
No CFTR mutations detected (negative). Report identifies specific mutations found, if any. Common panel includes F508del, G551D, R117H, N1303K, W1282X, 3849+10kbC>T, 1717-1G>A, and others per assay design.N/A
No fasting required. Informed consent may be required depending on institutional policy and regional regulations for genetic testing. Genetic counseling is recommended before and after testing.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying CFTR mutations is critical for early diagnosis, treatment planning, and genetic counseling. It helps guide medical management, including monitoring lung function, digestive health, and potential therapies tailored to specific mutations.
Short name
CFTR Gene Test
Frequently asked questions
Why might my doctor recommend this test?
What are the possible results and what do they indicate?
How long does it take to get my results?
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