Cftrmutanlbldt
Key facts at a glance
- LOINC
- 21654-9
- Short code
- CFTR
- Synonyms
- CFTR Mut Anl Bld/T
- 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
- 5304006
- Specimen volume
- 3-5 mL whole blood in EDTA tube; or tissue specimen as appropriate (minimum 5 mg tissue)
- Stability
- Whole blood: Room temperature 1-2 days; Refrigerated (2-8°C) up to 7 days; Frozen (-20°C or below) for long-term storage up to 1 year. Tissue: Refrigerated (2-8°C) up to 24 hours; Frozen (-70°C) for long-term storage. DNA extracted from specimen stable at 2-8°C for 1 week or -20°C for long-term.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 72–336 hours
- Order
- routine
Reference range
No mutations detected (Negative/Normal): No pathogenic CFTR variants identified in the tested mutation panel. Positive: One or more pathogenic CFTR mutations detected. Results interpreted in the context of clinical presentation and family history. Carrier status (heterozygous) reported when a single pathogenic variant is identified.N/A
No special patient preparation required. Fasting is not necessary. Genetic counseling is recommended before and after testing. Patients should be informed about the implications of genetic test results, including implications for family members. Written informed consent may be required per institutional policy.
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