Genetic Testing

ALSP is a disease caused by a rare mutation in the CSF1R gene on chromosome 5. It is an autosomal dominant disease, meaning that each child born to someone who has the CSF1R gene mutation has a 50% chance of also having this mutation. Because ALSP is often diagnosed after the childbearing years, most individuals have already had children by the time they are aware they have the disease. Currently there is no newborn genetic testing for the CSF1R gene mutation that causes ALSP.

The CSF1R mutation affects cells within the body that are part of the immune system. These cells are called macrophages and microglia. The mutation causes neurons to be misshapen due to the presence of spheroids in part of the cell. Macrophages take myelin away from the misshaped neurons which causes further damage. The CSF1R mutation also leads to underactive microglia, cells that are normally protective for neurons. The combination of neuron spheroids, lack of myelin, and underactive microglia are what cause the symptoms of ALSP.

CSF1R Genetics and Genetic Testing presented by Connolly Steigerwald, MS, CGC at NYU Langone Health for the ALSP Community. Recorded in 2022.

Genetic Testing through Invitae: If you have a family history of leukodystrophy and are interested in genetic testing, visit https://www.invitae.com/en.

CDC Website | Glossary of ALSP Terms

Genetic Counseling FAQ

Is my/my family’s neurologic disease genetic?

There are genetic and non-genetic causes of adult neurologic disease. A genetic counseling appointment can help clarify whether there may be a genetic contribution to the neurologic disease in your family.

What is genetic counseling and who should have genetic counseling?

We offer genetic counseling appointments for patients who may have a genetic cause for adult neurologic disease, for people who have positive genetic testing for that disease, and for people with a family history of that disease who want to learn about their risk. The goal of genetic counseling is to help you better understand the genetics and inheritance of the disease in your family and/or conditions that may be related, and to help you decide whether genetic testing is appropriate for you and your family. Having a genetic counseling appointment does NOT mean that you must have genetic testing. A genetic counseling visit includes taking a family history, reviewing medical history, explaining how genetic conditions are passed down through families, and discussing genetic testing options including the advantages and limitations of genetic testing. Genetic counselors can also help you find research, support, and advocacy resources that meet you and your family’s needs.

How do I prepare for a genetic counseling visit?

You should bring results from any genetic test you or your relatives have had. Also, because family history can help determine the right type of testing, it can be helpful gather information about health conditions in the family prior to the appointment. It can also be helpful to know if your relatives have or had problems similar to that of you/your affected family member.

Questions to ask include:

  • Who in the family has had neurologic or psychiatric conditions?
  • What is their diagnosis or name of their condition? Or what are their symptoms?
  • Does/did they have any other health problems?
  • What age did they start having symptoms?
  • Have they had genetic testing done for that condition?
  • What age did they pass away, and what was the cause of death?
How can I see a genetic counselor at Penn?

Currently, we are offering genetic counseling visits in-person and via telehealth (video visits). There are some restrictions regarding who we can see via telehealth related to which state a person lives in.

What does genetic testing involve?

Most genetic testing can be done with a saliva or a cheek swab sample, but require that you do not eat, drink, or smoke 30 minutes before sample collection. Some genetic tests require a blood sample, but there is no need to fast prior to having your blood drawn for genetic testing. Results of genetic testing take from a few weeks to a few months to receive, depending on the specific test.

Thank you to Penn Medicine, University of Pennsylvania Health System, Department of Neurogenetics for sharing this valuable resource. More information can be found on their website.

Is genetic counseling covered by my insurance?

Most insurance plans cover the cost of a genetic counseling visit. The CPT code for genetic counseling is 96040.

Is genetic testing covered by my insurance?

Most genetic testing is covered by insurance. During the visit, we will work with you to determine the best genetic testing lab(s) to order testing from based on your insurance and the recommended test(s). We will not send out any genetic tests without your permission. We will help you explore options for genetic testing coverage.

What is the cost of genetic testing?

The cost of testing depends on what specific testing is done. For this reason, the estimated cost often cannot be determined until after a specific test is recommended based on what is discussed during your visit. The cost of testing may be $0 for you, depending on your insurance and any sponsored testing that may be available at the time of your visit. Genetic testing for adult neurologic disease can cost from around $250 to $3,000 or more. We will not send out any testing without your permission, and in some cases, we can connect you with the billing department of the recommended lab(s).

If I am healthy but have a family history of a neurologic disease, would getting predictive genetic testing put me at risk for insurance and employment discrimination?

The Genetic Information Nondiscrimination Act (GINA) is a law that protects against genetic discrimination. Because of GINA, your health insurer cannot use a genetic test result, or family health history, to deny health insurance coverage or decide how much you pay for your health insurance. Unfortunately, GINA does not apply to life insurance, long-term care insurance, disability insurance. Additionally, GINA does not apply to people who work for the military or federal government, or for employers with less than 15 employees. Sometimes, people who are undergoing predictive genetic testing can apply for life insurance before receiving their test results. More information may be found at: http://www.ginahelp.org/. We can also discuss these issues at your genetic counseling visit.

Where can I talk with a genetic counselor and receive genetic testing?
  • Discuss options with your Neurologist
  • Online Genetic Counseling and Testing can be scheduled through Invitae: If you have a family history of ALSP and are interested in genetic testing, visit https://www.invitae.com/en.
  • If you are interested in meeting with a Genetic Counselor and you reside in Pennsylvania, tele visits may be available. If you reside outside of Pennsylvania but are willing and available to travel to Philadelphia to be seen at Penn Medicine by a genetic counselor, the phone number for scheduling is 215-662-3606, request a neurogenetics visit. 
  • To find a Genetics Counselor near you, search using the Genetic Counselor tool at https://findageneticcounselor.nsgc.org/.

Thank you to Penn Medicine, University of Pennsylvania Health System, Department of Neurogenetics for sharing this valuable resource. More information can be found on their website.