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CFTR Mutation Genetic Test via Mass Spectrometry (DNA)

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

This test checks for specific genetic changes (mutations) in the CFTR gene, which can cause cystic fibrosis or related conditions.

Quick summary

["Helps identify if you carry mutations linked to cystic fibrosis or other genetic disorders affecting lung function."]

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

Key facts at a glance

LOINC
77017-2
Short code
CFTR
Synonyms
CFTR Mut Anl Bld/T MS.MALDI-Imp
Category
chemistry
Sample
whole-blood
Container
EDTA (lavender/purple-top) blood collection tube; alternatively ACD (yellow-top) tube acceptable. For tissue: sterile container with saline or appropriate transport medium.
Units
N/A
Ref low
23
Ref high
97
Fasting
false
Population
adult
Sex
all
Age range
0–999 years
Method
ms-maldi-tof
CPT
81220
SNOMED
444900007
Specimen volume
3-5 mL whole blood (minimum 1 mL for pediatric samples); 5-10 mg tissue
Stability
Whole blood: Room temperature 24 hours, refrigerated (2-8°C) up to 7 days, frozen (-20°C or below) for extended storage up to 1 year. DNA extracted: stable at 2-8°C for 1 week, -20°C for long-term storage. 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 analyzes DNA from a blood sample to detect mutations in the CFTR gene. These mutations are variations in the genetic code that may increase your risk of cystic fibrosis or other respiratory conditions. The method used, mass spectrometry, precisely measures these DNA changes to identify which mutations are present.

Why It’s Done

Doctors may recommend this test if you have symptoms of cystic fibrosis (such as chronic lung infections, digestive issues, or recurrent sinus infections), a family history of cystic fibrosis, or if you’re considering pregnancy and there’s a known risk of cystic fibrosis in your family.

Sample Collection and Process

A small blood sample is taken from your arm. The DNA is extracted from the blood cells and analyzed for known CFTR mutations. The mass spectrometry method breaks down the DNA into measurable fragments to detect any genetic variations.

What the Results Mean

Results can be negative (no mutations detected), positive (mutations found), or indeterminate (some mutations may not be fully understood). If mutations are found, they may indicate an increased risk of cystic fibrosis or other genetic conditions requiring further evaluation.

Reference range

No CFTR mutations detected (Negative). Report indicates presence or absence of specific mutations tested. Common panel includes 23-97+ mutations depending on assay version. Positive results specify heterozygous or homozygous status for each mutation detected.N/A

Specimen: whole-blood

No fasting required. Patient should provide informed consent for genetic testing. Genetic counseling recommended before and after testing. Three-generation family history may be requested. Patient identity verification required per regulatory standards.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

CFTR Mutation Screening

Frequently asked questions

This test is crucial for diagnosing cystic fibrosis early, especially in newborns or those with suspected symptoms. Knowing your genetic status can guide treatment plans, family planning decisions, and monitoring for complications.
This test is not a diagnostic test for cystic fibrosis alone—it only identifies genetic mutations. A full diagnosis may require additional clinical evaluation, including physical exams, lung function tests, and sweat chloride testing.
If I have a family history of cystic fibrosis, should I get this test?
Yes, if you have a close relative with cystic fibrosis, this test can help determine if you carry the same mutations. It’s often recommended for at-risk individuals before pregnancy or as part of genetic counseling.
What if my test results show mutations but I don’t have symptoms?
Some mutations may be benign (not linked to cystic fibrosis), while others may be pathogenic (likely cause the condition). A healthcare provider will discuss the specific mutations found and their potential implications with you, possibly recommending further testing or monitoring.
  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