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Genetic Mutation Analysis for Cystic Fibrosis-Related Gene Panel (Blood)

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

This test checks for known genetic mutations linked to cystic fibrosis, a condition affecting lungs, digestive system, and other organs. It helps determine if you or your child may carry or have cystic fibrosis.

Quick summary

["Identifying cystic fibrosis mutations can guide treatment planning and family planning decisions."]

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

Key facts at a glance

LOINC
21646-5
Short code
CBS-MUT
Synonyms
CBS gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
EDTA (lavender/purple-top) tube for whole blood; sterile container for tissue specimens. Alternative: ACD (yellow-top) tube is acceptable for molecular genetics testing.
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
≥ 0 years
Method
molgen
CPT
81291
SNOMED
444956005
Specimen volume
Whole blood: 3-5 mL minimum (5-10 mL preferred). For pediatric patients: 1-2 mL minimum. Tissue: minimum 25-50 mg of fresh tissue or formalin-fixed paraffin-embedded (FFPE) tissue.
Stability
Whole blood: Room temperature 24 hours; refrigerated (2-8°C) up to 7 days; frozen (-20°C or below) for prolonged storage up to 1 year. DNA extracted from blood: stable for years at -20°C or -80°C. Tissue: FFPE blocks stable at room temperature indefinitely; fresh tissue should be frozen at -80°C if not processed within 24 hours. Avoid repeated freeze-thaw cycles.
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
168–720 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you or your child have symptoms of cystic fibrosis, a family history of the condition, or if prenatal testing was previously done and certain mutations were not identified. It can also be part of newborn screening in some regions.

What to Expect Before the Test

You will provide a blood sample, typically drawn from a vein in your arm. No special preparation is needed, but inform your provider if you are taking blood thinners or have a history of bleeding disorders.

What the Test Measures

The test analyzes DNA from your blood sample to detect specific genetic mutations associated with cystic fibrosis. These mutations can cause the body to produce an abnormal version of the CFTR protein, which regulates salt and water balance in cells.

How Results Are Used

Results help determine if cystic fibrosis is present or if you carry mutations that may be passed to future children. This information can influence treatment options, monitoring, and decisions about family planning.

Reference range

Reportable as mutation detected (Positive) or mutation not detected (Negative). Specific pathogenic variants identified are reported by nucleotide and protein change using HGVS nomenclature (e.g., c.833T>C, p.Ile278Thr).N/A

Specimen: whole-blood

No special patient preparation is required for molecular genetic testing. Patients should be advised that genetic testing results may have implications for family members. Informed consent for genetic testing is recommended per institutional policy. Provide three generations of family history if possible.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Identifying cystic fibrosis mutations is critical for early diagnosis, which can lead to timely interventions. For individuals diagnosed with cystic fibrosis, regular monitoring and specialized treatments can improve quality of life. For carriers, understanding their genetic status helps in reproductive planning and genetic counseling.

Short name

Cystic Fibrosis Gene Mutation Screen (Blood)

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of cystic fibrosis-causing mutations in your DNA. This may mean you have cystic fibrosis if symptoms are present, or you are a carrier if you do not have symptoms but could pass the mutation to your children.
Can this test detect all cystic fibrosis mutations?
This test checks for common mutations associated with cystic fibrosis. However, there are many possible mutations, and some may not be covered by this specific panel. Additional genetic testing may be needed for a complete evaluation.
How long does it take to get results?
Test results are typically available within 2 to 4 weeks, depending on the laboratory and complexity of the analysis.
  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