CFTR Gene Mutation Analysis (Targeted Sequencing for Cystic Fibrosis-Related Mutations)
This test identifies specific genetic changes in the CFTR gene, which is linked to cystic fibrosis (CF) and other related conditions. It helps determine if you carry mutations associated with these disorders.
["This test checks for known genetic mutations that may cause cystic fibrosis or related lung diseases."]
Key facts at a glance
- LOINC
- 70244-9
- Short code
- CFTR394delTT
- Synonyms
- CFTR c.394delTT Bld/T Ql
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA tube (lavender top) for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 81220
- SNOMED
- 446080005
- Specimen volume
- 3-5 mL whole blood; 5-10 mg tissue minimum
- Stability
- Whole blood: stable at room temperature for 24 hours, refrigerated (2-8°C) for 1 week, frozen (-20°C) for prolonged storage. Tissue: stable frozen at -80°C for long-term storage.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 72–336 hours
- Order
- routine
Why This Test Might Be Ordered
Your doctor may recommend this test if you have symptoms of cystic fibrosis (such as chronic lung infections, thick mucus, or digestive issues), a family history of CF, or if you’re considering genetic counseling or pregnancy planning. It can also be part of newborn screening in some regions.
What the Test Involves
The test uses a blood sample (whole blood) to analyze DNA from your cells. A lab technician will extract DNA from your blood and check for known mutations in the CFTR gene using advanced sequencing technology.
What to Expect Before the Test
No special preparation is needed, but you may be asked to fast for 8–12 hours before the blood draw if instructed by your doctor. Bring any medications you’re currently taking to your appointment.
What to Expect During the Test
A healthcare professional will draw blood from a vein in your arm. The process usually takes a few minutes and may cause a slight pinch. You can resume normal activities afterward.
Reference range
Negative (mutation not detected); Positive indicates heterozygous or homozygous carrier status for the c.394delTT deletion in the CFTR geneN/A
No special preparation required. Patient should provide informed consent for genetic testing. A detailed family history and clinical indication should be documented prior to testing.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CFTR Mutation Test
Frequently asked questions
What Does a Positive or Negative Result Mean?
Could Other Conditions Be Misdiagnosed?
How Often Should I Get This Test?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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