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Genetic Mutation Analysis for Cystic Fibrosis-Related Gene (CFTR)

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

This test checks for mutations in the CFTR gene, which may cause cystic fibrosis or other respiratory conditions.

Quick summary

["Identifies potential genetic causes of breathing or digestive issues."]

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

Key facts at a glance

LOINC
47956-8
Short code
CNR1 gene Mut Anl Bld/T
Synonyms
CNR1 gene Mut Anl Bld/T
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 Might Be Ordered

Your doctor may recommend this test if you or a family member have symptoms of cystic fibrosis (e.g., chronic cough, recurrent lung infections, or digestive problems) or if you have a family history of the condition. It can also be used for prenatal screening or carrier testing in certain situations.

How the Test Works

A small blood sample is taken to analyze DNA for known mutations in the CFTR gene. The test looks for changes in the gene sequence that may lead to cystic fibrosis or other genetic disorders.

Sample Collection and Preparation

Blood is drawn from a vein in your arm. The sample is sent to a lab for genetic testing. Results are typically available within 1–2 weeks, depending on the lab and testing complexity.

What to Expect Before the Test

No special preparation is needed, but inform your doctor about any medications you’re taking or recent illnesses. Avoid strenuous activity before the blood draw if advised.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Identifying CFTR mutations helps confirm a diagnosis of cystic fibrosis, guide treatment decisions, or assess risk for passing the condition to offspring. Some mutations may require specialized management, such as enzyme replacement therapy or dietary adjustments.

Short name

CFTR Mutation Test

Frequently asked questions

What Does a Positive Test Mean?
A positive result indicates the presence of known CFTR mutations linked to cystic fibrosis or related conditions. This does not always mean you have the disease—some mutations are mild or benign. Your doctor will discuss next steps based on your symptoms and family history.
How Long Does It Take to Get Results?
Results are usually ready within 1–2 weeks, but delays can occur due to lab backlogs or additional testing. Your doctor will contact you once results are available.
Can This Test Be Used for Prenatal Screening?
Yes, this test can be part of prenatal genetic testing (e.g., prenatal carrier screening or diagnostic testing) if you or your partner have a known CFTR mutation or a family history of cystic fibrosis.
  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