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GTR Home > Tests > Charcot-Marie-Tooth Syndrome


Test order codeHelp: 1035

Test name


Charcot-Marie-Tooth Syndrome

Purpose of the test


This is a clinical test intended for Help: Diagnosis



Click Indication tab for more information.

How to order


Customers will need to complete a separate Requisition Form for each patient and include it in the specimen kit provided. Before shipping, please verify that patient information and patient ID number on the form matches that on the specimen.
Order URL Help: http://www.knightdxlabs.com/

Specimen source

Cord blood
Dried blood spot (DBS) card
Fetal blood
Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Click Methodology tab for more information.

Clinical utility


Not provided

Clinical validity


Not provided

Practice guidelines

  • EuroGentest, 2011
    Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.