Do your patients know their CMT type?
Why is genetic testing crucial for my patients?
Now, more than ever, it is critical for patients that have been diagnosed with CMT in a clinical setting to take a genetic test to receive a definitive genetic diagnosis of their CMT type. With multiple therapeutics currently in the pipeline, only patients with valid genetic test results may be eligible for clinical trials to or to take the drugs once they are approved.
Isn’t my patient’s family history telling me the same thing?
In the case of CMT1a or other more common forms of Inherited Neuropathy (IN), family history can typically indicate type without the need for a genetic test. However, for the rarer forms of IN (25-50% of all patients), a genetic test is the only way to accurately identify type and causal genes associated with that type. Researchers are starting to turn their attention to ultra-rare forms of IN, making it imperative that all patients suffering from IN have an accurate genetic diagnosis of their condition.
What can genetic testing tell my patients?
Genetic testing can confirm the diagnosis of CMT and simplify the process by avoiding uncomfortable and invasive procedures such as electromyography and nerve biopsy. In addition, early diagnosis can facilitate early interventions such as relevant therapies. Having a genetic diagnosis may also help determine which relatives are at risk, or even qualify affected patients to enroll in certain clinical trials.
What genes are related to CMT?
To date more than 100 genes associated with CMT have been identified. Across all types of CMT, four genes account for the majority of cases (50%-75%): PMP22, MPZ, GJB1, and MFN2. Other genes have been identified as rare causes of CMT.
What other reasons should I consider when pursuing genetic testing?
- Eligibility for clinical trials and natural history studies.
- Confidence regarding directions of therapies.
- Alleviates “what if’s”; knowing helps to manage.
- Connect with others.
- To have important genetic information for family planning.
- Contribute to the expansion of scientific knowledge about CMT.
The following genetic testing sites below have indicated that they are equipped to conduct testing for hereditary neuropathies. The Hereditary Neuropathy Foundation does not endorse or recommend specific health care providers or treatment centers. We strive to keep this listing as accurate as possible. You may encounter addresses, phone numbers, and other information that have changed. If this happens please contact HNF to update us.