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CFTR Mutation Analysis (Pseudomonas aeruginosa Infection-Related Screening)

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

This test checks for specific genetic changes in the CFTR gene that may be linked to increased susceptibility to *Pseudomonas aeruginosa* infections, often associated with cystic fibrosis or other respiratory conditions.

Quick summary

["Helps identify genetic risks for certain infections that may require monitoring or treatment adjustments."]

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

Key facts at a glance

LOINC
21655-6
Short code
CFTRF508
Synonyms
CFTR p.F508del Bld/T Ql
Category
chemistry
Sample
whole-blood
Container
EDTA (lavender/purple-top) tube for whole blood; sterile container for tissue specimens
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
0–999 years
Method
molgen
CPT
81220
SNOMED
4451000179102
Specimen volume
3-5 mL whole blood in EDTA tube; minimum 1 mL for pediatric samples; tissue specimens require minimum 5 mg of tissue
Stability
Whole blood: stable for 7 days at 2-8°C; 30 days at -20°C; indefinite at -80°C. DNA extracted from specimen is stable for years when stored at -20°C or lower. Avoid repeated freeze-thaw cycles
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
72–336 hours
Order
routine

What This Test Measures

The test detects the presence of the *CFTR p.F508del* mutation, a common genetic variant in the CFTR gene. This mutation can affect how the body processes certain substances, potentially increasing vulnerability to infections like *Pseudomonas aeruginosa*. Results may be qualitative (positive/negative) or confirmatory, depending on clinical context.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms of respiratory issues, recurrent infections, or a family history of cystic fibrosis or related genetic conditions. It’s sometimes used in screening for patients with chronic lung infections or those at higher risk due to genetic predisposition.

Sample Collection and Preparation

The test typically uses a blood sample (whole blood) to analyze DNA. A healthcare professional will draw blood, usually from a vein in your arm. The sample is then processed in a lab to identify the genetic mutation.

What to Expect Before the Test

No special preparation is usually needed, but you may be asked to avoid certain medications (like antibiotics) for a short time if directed by your provider. If you’re pregnant or have bleeding disorders, let your doctor know before the test.

Reference range

Negative (mutation not detected). Positive result indicates presence of the p.Phe508del mutation in one or both alleles (heterozygous or homozygous)N/A

Specimen: whole-blood

No special preparation required. Informed consent for genetic testing is recommended prior to sample collection. Patients should be informed of the implications of genetic test results including potential impact on family members

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

CFTR Gene Test for Pseudomonas Screening

Frequently asked questions

Will this test show if I already have an infection?
No, this test only checks for the genetic mutation itself—not whether you currently have an infection. If you’re experiencing symptoms of infection, additional tests (like cultures) may be needed to confirm the presence of *Pseudomonas aeruginosa* or other pathogens.
Can this test be used to diagnose cystic fibrosis?
This test is part of a broader evaluation for cystic fibrosis or related genetic conditions. A definitive diagnosis often requires additional tests, such as sweat chloride testing or genetic panels that include other CFTR mutations. Your provider will work with you to determine the best approach.
What if my test result is positive for this mutation?
A positive result means you carry the mutation but does not necessarily mean you will develop symptoms. Regular monitoring with your healthcare provider may be recommended to track your health and address any signs of infection early. Follow-up may include pulmonary function tests, respiratory care, or preventive treatments.
  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