I have a family member diagnosed with CMT

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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.

PLEASE SELECT EITHER 1 OR 2 UNDER ONE OF THE ANSWERS MARKED A – D

A. My family member has had genetic testing & knows what genetic subtype of CMT they have

1. I have similar symptoms to my family member

I have a family member diagnosed with CMT, my family member has had genetic testing, my family member knows what genetic subtype of CMT they have, and I have similar symptoms to my family member.

Next Steps?

1. First, you need a copy of your family member’s genetic report

A genetic report will look like a lab report and include the date of order, date of collection, date of report, ordering provider, and name of the genetic testing lab.

  • If your relative does not have a copy of their report, it is easiest for your relative to go directly to the lab the test was sent to if they do not have a copy. *HINT* If your relative received their testing before 2009, the lab their testing was sent to was probably Athena Diagnostics. Your relative can call the lab to find out how to obtain a copy of their report.
  • Sometimes, relatives do not feel comfortable sharing their personal health information with family members and their providers. It is okay if your relative redacts their identifying information (name, date of birth, address), but it helps to keep the date ordered, collected, and resulted, as well as the accession number and name of the ordering provider legible.
    You will want a knowledgeable healthcare provider to take a look at your relative’s report to make sure there is a pathogenic variant listed. If it is classified as uncertain, your healthcare provider might need to discuss it with your relative’s healthcare team.

2. Next, you have three options

a. Single-site

Single-site testing looks at the exact variant that exists in your family member (think ctrl+Find function; rather than scanning the entire page, you can go straight to the word you are looking for).

This testing is often the most cost-effective option because it uses older technology called Sanger sequencing.

b. Sponsored

Your healthcare provider might be able to order a multi-gene panel through a sponsored program.

You might discover additional genetic variants that may or may not be meaningful to your condition.

The lab will still want a copy of your relative’s report so they can be sure to look for the precise variant.

* A neuro exam may be required

This will determine if your neuropathy is related to CMT, or if there might be a different cause.

You can find a qualified neurologist familiar with CMT through the HNF Centers of Excellence.

If you have ever had a nerve conduction study/electromyography (NCS/EMG), be sure to locate a copy of your report to bring to your neurology visit. The NCS/EMG is a procedure where the electrophysiologist places electrodes and/or needles along various points in your arms and legs to determine if electrical impulses are properly being read and processed by your nerves and/or muscles. If you have not had this test, it might be necessary in order for the neurologist to give a definitive diagnosis.

c. CMT Counceling

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 “Book A Call.” 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.

2. I do not think I have CMT, but I want to be tested to be sure

Next Steps?

First, you need a copy of your family member’s genetic report

  • A genetic report will look like a lab report and include the date of order, date of collection, date of report, ordering provider, and name of the genetic testing lab.If your relative does not have a copy of their report, it is easiest for your relative to go directly to the lab the test was sent to if they do not have a copy. *HINT* If your relative received their testing before 2009, the lab their testing was sent to was probably Athena Diagnostics. Your relative can call the lab to find out how to obtain a copy of their report.Sometimes, relatives do not feel comfortable sharing their personal health information with family members and their providers. It is okay if your relative redacts their identifying information (name, date of birth, address), but it helps to keep the date ordered, collected, and resulted, as well as the accession number and name of the ordering provider legible.
  • You will want a knowledgeable healthcare provider to take a look at your relative’s report to make sure there is a pathogenic variant listed. If it is classified as uncertain, your healthcare provider might need to discuss with your relative’s healthcare team.

Next, your ideal option will be single-site testing

  • Single-site testing looks at the exact variant that exists in your family member (think ctrl+Find function, rather than scanning the entire page, you can go straight to the word you are looking for).
  • This testing is often the most cost-effective option because it uses older technology called Sanger sequencing.

Alternatively, you can consider cash pay

  • If you would like to read more about the alternative genetic testing options, see this page.
  • Insurance is not likely to pay for CMT genetic testing on someone who does not have signs or symptoms of the disease

If you decide to proceed with Genetic Testing

At any point, if you decide to proceed with genetic testing, you may access our virtual CMT Counceling Service without a prescription by clicking on  “Book A Call.” 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. You’ll be connected with our genetic counseling service during the call to schedule an initial consultation and testing.

Genetic discrimination

  • Genetic discrimination is the means of using genetic information to limit a person’s equitable access to something. When you do not show signs of the disease, receiving a positive genetic report does not mean you have the disease. Genetic discrimination mainly refers to discrimination in obtaining or determining the cost of certain insurances or employment.
  • Health insurance and employment for companies that have at least 15 employees are prohibited from using your genetic information to change your care or treatment. This is due to a federal act signed into law in 2008, called the Genetic Information Nondiscrimination Act (GINA). This act does not protect those who are on certain types of insurance, such as TriCare. Military or governmental insurance has its own protections.
  • Disability, life, and long-term care insurances are not protected under GINA. Depending on which state you’re in, there may be additional provisions to protect your ability to obtain these insurances with a genetic predisposition.

B. My family member has had genetic testing & does not have a specific genetic subtype of CMT identified

1. I have similar symptoms to my family member

I have a family member diagnosed with CMT, my family member has had genetic testing, my family member does not have a specific genetic subtype of CMT identified, and I have similar symptoms to my family member.

Next Steps?

1. You can get your own testing. 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 “Book A Call.” 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.

It might help for the lab or researcher to compare your genetics with your relative

This requires obtaining a copy of the genetic report of your relative. A genetic report will look like a lab report and include the date of order, date of collection, date of report, ordering provider, and name of the genetic testing lab.

  • If your relative does not have a copy of their report, it is easiest for your relative to go directly to the lab the test was sent to if they do not have a copy. *HINT* If your relative received their testing before 2009, the lab their testing was sent to was probably Athena Diagnostics. Your relative can call the lab to find out how to obtain a copy of their report.
  • Sometimes, relatives do not feel comfortable sharing their personal health information with family members and their providers. It is okay if your relative redacts their identifying information (name, date of birth, address), but it helps to keep the date ordered, collected, and resulted, as well as the accession number and name of ordering provider legible.

2. Refer to this page to discover the different options for testing available to you

3. A neuro exam may be required

  •  This will determine if your neuropathy is related to CMT, or if there might be a different cause.
  • You can find a qualified neurologist familiar with CMT through the HNF Centers of Excellence.
  • If you have ever had a nerve conduction study/electromyography (NCS/EMG), be sure to locate a copy of your report to bring to your neurology visit. The NCS/EMG is a procedure where the electrophysiologist places electrodes and/or needles along various points in your arms and legs to determine if electrical impulses are properly being read and processed by your nerves and/or muscles. If you have not had this test, it might be necessary in order for the neurologist to give a definitive diagnosis.

2. I do not think I have CMT, but I want to be tested to be sure

I have a family member diagnosed with CMT, my family member has had genetic testing, my family member does not have a specific genetic subtype of CMT identified, and I do not think I have CMT, but I want to be tested to be sure.

Next Steps?

There is nothing to test in you until your family member receives a genetic diagnosis

  1. If you test negative, it is not a true negative (i.e.: we might not be looking for the needle in the right haystack).
  2. Even if you are not showing symptoms, it is possible you might develop symptoms as you get older
  3. Often, family members will have similar ages of onset (within 10 years of each other), however, this can vary widely.

C. My family member has not had genetic testing

1. I have similar symptoms to my family member

Click here.

2. I do not think I have CMT, but I want to be tested to be sure

I have a family member diagnosed with CMT, my family member has not had genetic testing, and I do not think I have CMT, but I want to be tested to be sure.

Next Steps ?

There is nothing to test in you until your family member receives a genetic diagnosis

  1. If you test negative, it is not a true negative (we might not be looking for the needle in the right haystack).
  2. Even if you are not showing symptoms, it is possible you might develop symptoms as you get olderOften, family members will have similar ages of onset (within 10 years of each other), however, this can vary even more widely.
  3. If your family member refuses to be tested, or you are not in contact with them, there are several options that may be available to you here. ⇓

What are my options for Genetic Testing

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 “Book A Call.” 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.

Cash pay

  • The most cost-effective labs charge between $250-1,000 for a multi-gene panel
  • You CANNOT file a claim for insurance reimbursement if you choose the cash pay route.
  • Some people choose this route because they do not want to wait longer for testing, or because they want to know ahead of time what they will be paying, so there are no surprises after the test is completed.

Insurance

  • Pay close attention to your policy’s Evidence of Coverage booklet to see if genetic testing is a covered benefitMany insurance policies only cover genetic testing for certain conditions (such as hereditary cancer risk)
  • You may need to know the CPT codes for the test (contact the lab directly)
  • Your test may only be covered under certain circumstances (such as to be used for family planning)

Prior authorization

  • Some insurance policies require that a request for the service is presented to insurance BEFORE the test is run
  • Some insurance policies WILL NOT offer prior authorization for a service not already listed in the Evidence of Coverage, which might mean that the test will NOT be covered
  • Remember, prior authorization IS NOT GUARANTEE OF PAYMENT. Once the test is run, the lab files a claim for reimbursement for the cost of the test. If it is determined that the test did not meet requirements for reimbursement (for example, if it is determined to not have been medically necessary), insurance may not provide any reimbursement to the lab. In this case, you may receive a balance bill, where you are responsible for paying the original price of what the lab charged your insurance for the test. This could be several thousands of dollars.

Financial aid

  • Many labs offer financial assistance to patients who cannot otherwise afford genetic testing
  • Aid is often based on family size and annual income; other pressing circumstances may be considered (such as a death in the family or excessive medical bills)
  • Most labs require you to choose insurance pay to be eligible for assistance
  • You may need to submit proof of income (such as W-2, pay stubs, or 1090 tax forms)
  • If you don’t have insurance, you might be able to apply for an economic hardship grant through the labLabs may be limited in the number of grants they provide each year
  • Interest-free payment plans may also be an option

How can I get tested?

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 “Book A Call”. 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.

D. I don’t know if my family member has had genetic testing

1. I have similar symptoms to my family member

Click here.

2. I do not think I have CMT, but I want to be tested to be sure

I have a family member diagnosed with CMT, my family member has not had genetic testing, and I do not think I have CMT, but I want to be tested to be sure.

Next Steps ?

There is nothing to test in you until your family member receives a genetic diagnosis

  1. If you test negative, it is not a true negative (we might not be looking for the needle in the right haystack).
  2. Even if you are not showing symptoms, it is possible you might develop symptoms as you get olderOften, family members will have similar ages of onset (within 10 years of each other), however, this can vary even more widely.
  3. If your family member refuses to be tested, or you are not in contact with them, there are several options that may be available to you here. ⇓

What are my options for Genetic Testing

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 “Book A Call.” 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.

Cash pay

  • The most cost-effective labs charge between $250-1,000 for a multi-gene panel
  • You CANNOT file a claim for insurance reimbursement if you choose the cash pay route.
  • Some people choose this route because they do not want to wait longer for testing, or because they want to know ahead of time what they will be paying, so there are no surprises after the test is completed.

Insurance

  • Pay close attention to your policy’s Evidence of Coverage booklet to see if genetic testing is a covered benefit. Many insurance policies only cover genetic testing for certain conditions (such as hereditary cancer risk)
  • You may need to know the CPT codes for the test (contact the lab directly)
  • Your test may only be covered under certain circumstances (such as to be used for family planning)

Prior authorization

  • Some insurance policies require that a request for the service is presented to insurance BEFORE the test is run
  • Some insurance policies WILL NOT offer prior authorization for a service not already listed in the Evidence of Coverage, which might mean that the test will NOT be covered
  • Remember, prior authorization IS NOT GUARANTEE OF PAYMENT. Once the test is run, the lab files a claim for reimbursement for the cost of the test. If it is determined that the test did not meet requirements for reimbursement (for example, if it is determined to not have been medically necessary), insurance may not provide any reimbursement to the lab. In this case, you may receive a balance bill, where you are responsible for paying the original price of what the lab charged your insurance for the test. This could be several thousands of dollars.

Financial aid

  • Many labs offer financial assistance to patients who cannot otherwise afford genetic testing
  • Aid is often based on family size and annual income; other pressing circumstances may be considered (such as a death in the family or excessive medical bills)
  • Most labs require you to choose insurance pay to be eligible for assistance
  • You may need to submit proof of income (such as W-2, pay stubs, or 1090 tax forms)
  • If you don’t have insurance, you might be able to apply for an economic hardship grant through the lab may be limited in the number of grants they provide each year
  • Interest-free payment plans may also be an option

How can I get tested?

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 “Book A Call”. 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.

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