Skip to content

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation Analysis (Specific Mutation Detection)

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

This test checks for a specific genetic mutation (c.2184del) in the CFTR gene, which is linked to cystic fibrosis (CF). It helps determine if you carry this mutation that may affect how your body processes certain substances.

Quick summary

["This test helps diagnose or assess risk for cystic fibrosis by identifying a known genetic mutation linked to the condition."]

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

Key facts at a glance

LOINC
38450-3
Short code
CFTR c.2184delA Bld/T Ql
Synonyms
CFTR c.2184delA 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 test looks for a deletion mutation (removal of one base pair) in the CFTR gene at position 2184. This mutation can disrupt normal protein function, potentially contributing to cystic fibrosis symptoms or carrier status. The test analyzes DNA from a blood sample to detect this specific genetic change.

Why It Matters for Health

While this mutation alone may not always cause cystic fibrosis, it is one of many possible genetic variations in the CFTR gene that can increase risk. If you have symptoms of CF or a family history of the disease, this test may help clarify your genetic profile.

Sample Collection and Process

A blood sample is typically drawn from your arm. The DNA is extracted from your white blood cells and analyzed for the c.2184del mutation using advanced genetic sequencing techniques. Results are reported as either positive (mutation detected) or negative (mutation not found).

What to Expect Before or After Testing

No special preparation is needed for this blood test. You may experience mild discomfort or bruising at the injection site. If you are pregnant, have an infection, or take certain medications, let your healthcare provider know before testing.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

CFTR Mutation Screening (Delinsufficiency at Position 2184)

Frequently asked questions

What does a positive result mean?
A positive result indicates you carry the c.2184del mutation in your CFTR gene. While this mutation can be associated with cystic fibrosis in some cases, it may also be present in individuals without symptoms. Genetic testing helps clarify risk and guide further evaluation if needed, such as sweat chloride testing or additional genetic counseling.
What does a negative result mean?
A negative result means the c.2184del mutation was not detected in your DNA sample. However, cystic fibrosis can be caused by other mutations in the CFTR gene, so further genetic testing may be recommended if you have symptoms or a family history of CF.
How often should I get this test?
This test is typically ordered as part of diagnostic workup for cystic fibrosis, genetic counseling, or prenatal screening. Your healthcare provider will determine if repeat testing is necessary based on your medical history and symptoms.
  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