Genetic Testing – CMT Genie

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Disclaimer: Please note that HNF does not endorse any specific genetic testing labs. Those mentioned in this breakdown do not include every genetic testing lab that has hereditary neuropathy panels.

This resource was created by Tara Jones, LCGC, member of our TRIAD Council and genetic counselor at Cedars-Sinai Medical Center. Tara would like to report that she owns stock in Invitae and Myriad Women’s Health, genetic testing companies.

Wish there was an easy guide for genetic testing?
Now there is with the CMT Genie!

Trying to get a genetic confirmation of CMT can be overwhelming, and you might not have access to health care providers who are familiar with all the choices out there. HNF’s CMT Genie is designed to assist you and your health care provider determine what the best option is for you!

Back in the early 21st century, genetic testing was very expensive, and doctors had to test one gene at a time in order of the greatest likelihood of finding an answer. You might remember being tested for PMP22, and it came back negative, so then your doctor ordered a small five-gene panel of the most common causes of CMT1, again negative. Does that mean you will never find the answer? NO! In fact, every 5-10 years, it might be worthwhile to revisit genetic testing if you still don’t have an answer.

Since the implementation of next-generation sequencing (NGS), it has allowed up to thousands of genes to be sequenced on a single panel. And recently, it has become possible to sequence your ENTIRE GENOME (all of your genetic material) for less than $3,000.

You may already have a genetic confirmation of your CMT.  If you do, please watch this video to learn about how to understand your genetic report.

How does the CMT Genie work?

  • You’ll be asked a series of questions regarding your genetic testing status. Each answer will prompt you to a new page with additional questions and/or matched resources.
  • At any point, if you decide to proceed with genetic testing, you may access our virtual CMT counseling service without a prescription by clicking on the “Book A Call” button. This will allow you to schedule an Intro Zoom meeting (or call, if preferred) with the HNF team to learn more about what matters most to you at this point during your diagnostic journey. During the call, you’ll be connected with our genetic counseling service to schedule an initial consultation and testing.

Genome Medical Specialized Genetic Services

Genome Medical and HNF have partnered together to deliver a new way for you to access high quality, personalized genetic care.

Why get tested?

  • Similar conditions can be ruled out
  • Early interventions can be enabled, i.e., PT, bracing, etc.
  • Dangerous Neurotoxins can be avoided
  • Clinicians can better predict a patient’s prognosis and progression
  • Support for family planning by understanding the inheritance pattern
  • Most clinical trials or research programs require a genetic diagnosis

Let’s get started!

Click one of the three scenarios that best fits you

I have a clinical diagnosis of CMT

I have a family member diagnosed with CMT

There is some uncertainty about whether I have CMT

FAQs

How much will genetic testing & counseling cost?

HNF offers reduced pricing for genetic counseling through the CMT Genie Project. The cost for two 30-minute virtual consultations with a qualified genetic counselor is $159 (without insurance). Many insurance plans cover counseling in which copays can be as low as $50.

The majority of individuals are eligible for sponsored genetic testing at no cost.

STILL HAVE QUESTIONS?

Email your genetic testing questions to: Courtney@hnf-cure.org

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