Genetic mutation analysis for the NF2 gene (whole blood)
This test checks for mutations in the NF2 gene, which may be linked to neurofibromatosis type 2 (NF2), a rare genetic disorder affecting the nervous system.
["NF2 gene mutations can help diagnose or monitor conditions like NF2."]
Key facts at a glance
- LOINC
- 47966-7
- Short code
- NCF2 gene Mut Anl Bld/T
- Synonyms
- NCF2 gene Mut Anl Bld/T
- 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 Is This Test For?
The NF2 gene mutation test is used primarily to identify changes (mutations) in the NF2 gene that may cause NF2, a condition that can lead to tumors along the nervous system. It is often recommended for individuals with symptoms of NF2 or those with a family history of the disorder.
How Is the Sample Collected?
A small amount of your blood will be drawn from a vein, usually in your arm, by a healthcare professional. This process is quick and typically causes only mild discomfort.
What Does the Test Involve?
The test involves analyzing your blood sample for specific genetic mutations in the NF2 gene. Advanced laboratory techniques, such as next-generation sequencing, are used to detect these mutations.
How Long Until Results Are Available?
Results from this genetic test can take several weeks to a few months, depending on the laboratory’s processing schedule and the complexity of the genetic analysis.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Having an NF2 gene mutation can confirm a diagnosis of neurofibromatosis type 2, which is characterized by the growth of tumors on the nerves in the brain and spinal cord. Early detection can help guide treatment plans, monitor disease progression, and inform family planning decisions. If you have symptoms such as hearing loss, vision problems, or headaches, or if you have a family history of NF2, this test may be recommended.
Short name
NF2 Gene Mutation Test
Frequently asked questions
Why Might I Need This Test?
What Are Common Symptoms of NF2?
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