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Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation Screening by High-Throughput Sequencing

Published: August 9, 2026Updated: August 16, 2026

This test checks for genetic mutations linked to cystic fibrosis (CF) by analyzing DNA from a blood sample. It helps determine if you carry mutations associated with the condition.

Quick summary

["Identifying CF mutations can guide diagnosis and treatment planning for CF or related genetic risks."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
38456-0
Short code
CFTR c.3849+10kbC>T Bld/T Ql
Synonyms
CFTR c.3849+10kbC>T Bld/T Ql
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Is Done

Doctors may recommend this test if you have symptoms of cystic fibrosis (e.g., chronic lung infections, digestive issues) or if you have a family history of CF. It’s also used in newborn screening programs in some regions.

What to Expect Before the Test

No special preparation is needed. A healthcare provider will draw blood from a vein in your arm. The blood sample is then sent to a lab for genetic analysis.

How the Test Works

The lab examines your DNA to identify specific mutations in the CFTR gene. High-throughput sequencing detects multiple mutations simultaneously, providing a comprehensive genetic profile.

What the Results Mean

Results may show whether you carry known CF-causing mutations. A positive result confirms a genetic risk for CF, while negative results indicate no detectable mutations in this test. Follow-up testing may be needed for further evaluation.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

This test is critical for diagnosing cystic fibrosis and guiding personalized treatment plans. Early detection allows for early interventions, such as enzyme replacement therapy, physical therapy, or lifestyle adjustments to manage symptoms.

Short name

CFTR Mutation Screen

Frequently asked questions

What does a positive test result mean?
A positive result means you carry mutations linked to cystic fibrosis. This does not confirm the disease unless symptoms are present or other diagnostic tests confirm CF. Your doctor will discuss next steps, such as further genetic testing or monitoring.
How often should I get this test?
This test is typically done once as part of diagnosis or screening. If you have a family history of CF, your doctor may recommend periodic testing or monitoring based on your risk profile.
Can lifestyle changes affect test results?
No, this test measures genetic mutations, which are inherent to your DNA. Lifestyle factors do not influence the test results, but they can impact symptoms related to CF.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

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.

Medical Disclaimer

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