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Genetic Mutation Testing for CMTX (X-Linked Charcot-Marie-Tooth Disease, Type X)

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

This test checks for mutations in the CMTX gene, which may cause X-linked Charcot-Marie-Tooth disease (CMTX), a type of inherited nerve disorder.

Quick summary

["A genetic test to identify potential causes of nerve-related symptoms."]

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

Key facts at a glance

LOINC
38529-4
Short code
CMTX2 gene Mut Anl Bld/T
Synonyms
CMTX2 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 Charcot-Marie-Tooth Disease (CMTX)?

CMTX is a rare inherited condition affecting the peripheral nerves, leading to progressive weakness, muscle atrophy, and sensory loss in the legs and feet. It typically appears in childhood or early adulthood and can affect mobility and coordination.

Why Might You Need This Test?

This test may be recommended if you have symptoms like muscle weakness, foot deformities, or a family history of similar nerve-related conditions. It can also be part of genetic counseling for individuals considering pregnancy or genetic testing for at-risk relatives.

How Is the Sample Collected?

A blood sample is typically drawn from a vein in your arm by a healthcare professional. This sample is then sent to a laboratory for genetic analysis.

What Does the Test Result Mean?

If mutations in the CMTX gene are found, it confirms a genetic link to CMTX. If no mutations are detected, it means no obvious genetic cause for your symptoms was identified through this test. Results may require further evaluation by a healthcare provider.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

CMTX Gene Mutation Screening

Frequently asked questions

How common is CMTX?
CMTX is rare, affecting fewer than 1 in 100,000 people. Early diagnosis can help manage symptoms and plan for long-term care, though there is no cure. Genetic counseling is often recommended to discuss implications for family planning.
Can this test be done on saliva?
No, this test requires a blood sample for genetic analysis. Saliva samples are not used for this specific mutation screening.
What if my test result is positive?
A positive result means you carry mutations linked to CMTX. Your healthcare provider will work with you to develop a care plan, including monitoring symptoms, physical therapy, and genetic counseling to support you and your family.
  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