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MUTATION ANALYSIS FOR NF2 GENE (SEQUENCING)

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

This test checks for changes (mutations) in the NF2 gene, which may be linked to neurofibromatosis type 2, a rare genetic disorder affecting nerve cells.

Quick summary

["Assists in diagnosing or monitoring NF2-related conditions by identifying gene mutations in a blood sample."]

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

Key facts at a glance

LOINC
45332-4
Short code
NF2 gene Mut Anl Amn
Synonyms
NF2 gene Mut Anl Amn
Category
chemistry
Sample
fluid
Container
Sterile tube
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
2-5 mL
Stability
Room temperature: 2h, Refrigerated: 24h
Hemolysis max
300
TAT
4–24 hours
Order
routine

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms like hearing loss, vision problems, or tumors in the brain or spinal cord. It’s also used for genetic counseling, risk assessment, or before certain surgeries.

What to Expect Before the Test

You’ll typically provide a blood sample, which is sent to a lab for genetic sequencing. No special preparation is needed, but fasting may be advised for some related bloodwork if ordered together.

What the Results Mean

Results indicate whether the NF2 gene has mutations associated with neurofibromatosis type 2. Positive results confirm a genetic predisposition, while negative results mean no detectable mutations in this test.

Common Symptoms Linked to NF2

Symptoms may include bilateral vestibular schwannomas (acoustic neuromas), cataracts, spinal tumors, or other neurological issues. Early detection helps guide treatment plans.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

This test helps confirm a diagnosis by identifying mutations linked to NF2, which can influence treatment options, surveillance strategies, and genetic counseling for family members.

Short name

NF2 Gene Mutation Test

Frequently asked questions

What does a positive result mean for my health?
A positive result means you have a mutation in the NF2 gene, increasing your risk of developing neurofibromatosis type 2. Your doctor will discuss symptoms, treatment options, and monitoring plans tailored to your needs.
How often will I need follow-up tests?
Follow-up frequency depends on your symptoms and doctor’s recommendations. Regular imaging (e.g., MRI) may be advised to monitor for tumors or other NF2-related changes.
Can this test be used for family members?
Yes, if you’re at risk due to a family history, this test can help determine whether your relatives carry the NF2 mutation, allowing for proactive genetic counseling and screening.
  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