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Genetic test for cystic fibrosis transmembrane conductance regulator (CFTR) mutation analysis via probe-based assay

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

This test checks for specific changes (mutations) in the gene responsible for cystic fibrosis (CF) by using a specialized DNA probe to detect variations in your DNA.

Quick summary

["Helps diagnose cystic fibrosis or assess genetic risk for the condition."]

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

Key facts at a glance

LOINC
79386-9
Short code
EC stx1 gene Stl Ql NAA+probe
Synonyms
EC stx1 gene Stl Ql NAA+probe
Category
chemistry
Sample
stool
Container
Clean container
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
probe-amp-tar
Specimen volume
5 g
Stability
Refrigerated: 24h, Frozen: 7d
TAT
4–24 hours
Order
routine

What This Test Measures

The test identifies mutations in the CFTR gene, which encodes a protein critical for regulating salt and water balance in cells. Certain mutations can lead to cystic fibrosis, a genetic disorder affecting lungs, digestive system, and other organs.

How the Test Works

A small sample of your DNA is analyzed using a probe-based technique. This method detects specific DNA sequences associated with known CFTR mutations, helping confirm or rule out cystic fibrosis.

Why It’s Done

This test may be recommended for newborn screening, genetic counseling, prenatal diagnosis, or if you or a family member have symptoms or a history of cystic fibrosis.

Preparation and Process

No special preparation is needed. A blood sample or buccal swab (saliva sample) is collected for DNA extraction. Results are typically available within 1–2 weeks.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: This test is crucial for diagnosing cystic fibrosis early, guiding treatment decisions, and providing genetic counseling for families. Identifying mutations helps determine disease severity and potential complications, allowing for targeted management strategies.

Short name

CFTR Mutation Probe Test

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of specific CFTR mutations linked to cystic fibrosis. This may confirm a diagnosis if symptoms are present or guide further testing for genetic counseling.
What does a negative result mean?
A negative result means the tested mutations were not detected in your DNA sample. However, cystic fibrosis can result from other mutations not covered by this test, so further genetic testing may still be needed.
How long does it take to get results?
Results are usually available within 1–2 weeks after sample processing. Your healthcare provider will discuss findings with you during follow-up.
  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