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CFTR Gene Mutation Analysis (Cystic Fibrosis Transmembrane Conductance Regulator)

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

This test checks for specific genetic changes in the CFTR gene, which can cause cystic fibrosis or other related conditions.

Quick summary

["A genetic test to identify mutations linked to cystic fibrosis or related disorders."]

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

Key facts at a glance

LOINC
38453-7
Short code
CFTR c.3659delC Bld/T Ql
Synonyms
CFTR c.3659delC 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

What This Test Measures

The CFTR gene mutation analysis looks for deletions, insertions, or other variations in the CFTR gene. These changes can affect how your body processes certain proteins, potentially leading to cystic fibrosis or other respiratory or digestive issues.

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 planning pregnancy and have a known risk of passing on cystic fibrosis-related genes.

How It Works

Blood or saliva samples are collected and analyzed to detect specific genetic mutations in the CFTR gene. Advanced techniques like next-generation sequencing may be used to identify multiple mutations at once.

Sample Collection

A blood sample (whole blood) or saliva sample may be taken. Blood is drawn from a vein, while saliva is collected by spitting into a container. This is typically done in a lab setting.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

CFTR Mutation Test

Frequently asked questions

Identifying CFTR mutations helps confirm a diagnosis of cystic fibrosis or assess genetic risk for carriers. Early detection can guide treatment plans, including monitoring for complications like lung infections or digestive issues.
This test does not provide a diagnosis of cystic fibrosis alone—it only identifies genetic mutations. Additional tests (like sweat chloride tests) may be needed for a full evaluation.
How long will results take?
Results can take several days to a few weeks, depending on the laboratory and complexity of the test. Your healthcare provider will contact you once results are ready.
What if I have a positive result?
A positive result means you have a known CFTR mutation. Your doctor will discuss next steps, which may include genetic counseling, further testing, or monitoring for symptoms of cystic fibrosis or related conditions.
  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