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Genetic Mutation Analysis for Charcot-Marie-Tooth Disease (CMT) via Whole Blood DNA Testing

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

This test checks for specific genetic mutations linked to Charcot-Marie-Tooth (CMT) disease, a group of nerve disorders that affect movement and sensation in the hands and feet.

Quick summary

["Determining if you carry harmful gene changes that may cause CMT-related symptoms."]

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

Key facts at a glance

LOINC
35464-7
Short code
CMT2 gene Mut Anl Bld/T
Synonyms
CMT2 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

Why This Test Might Be Ordered

Your doctor may recommend this test if you have symptoms like muscle weakness, numbness, or balance issues in your hands and feet, or if a family member has CMT. It’s also used for genetic counseling or before certain surgeries.

What to Expect Before the Test

You’ll provide a small blood sample, usually taken from your arm. No special preparation is needed, but tell your doctor about any medications or health conditions that could affect results.

What the Test Measures

The test looks for mutations in genes (such as *PMP22*, *GARS*, or *MPZ*) that are commonly associated with CMT. These mutations can cause nerve damage over time, leading to the disease’s characteristic symptoms.

How Results Are Used

Results help doctors confirm a genetic diagnosis, guide treatment plans, or inform family planning decisions. If you’re at risk, this test can help monitor your health and plan for future care.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: Understanding CMT and Genetic Testing

Short name

CMT Gene Mutation Blood Test

Frequently asked questions

What does a positive result mean?
A positive result means you carry one or more of the tested mutations linked to CMT. This doesn’t always mean you’ll develop the disease—some people with these mutations may never show symptoms. Your doctor will discuss your risk and next steps based on your family history and symptoms.
Will this test show all possible CMT-related mutations?
This test checks for specific mutations in common CMT genes. There are many other genes and mutations that could cause CMT, so additional genetic testing might be needed if symptoms persist or if other family members are affected.
Can I get false results?
Rarely, but possible. False positives or negatives can occur due to lab errors, technical issues, or mutations in genes not covered by this test. Your doctor will interpret results in the context of your medical history and symptoms.
  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