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Gaucher disease (GD) is a rare genetic condition that affects the bones, liver, spleen, and other parts of the body. GD is caused when an individual inherits a change or variant in the GBA gene from both of their parents. This gene change results in the body making too little of a specific enzyme called β-glucosidase or glucocerebrosidase that is needed to break down certain fats called glucocerebroside (GL1). These fatty substances build up in the cells of the bone, spleen, liver, and other parts of the body.
Gaucher disease related health issues can start at any age but based on the timing when symptoms begin and the seriousness of the medical issues it is divided into 3 types: type 1, type 2 and type 3. GD type 1 symptoms can begin in childhood or adulthood and respond well to treatment when begun early. Usually, type 1 Gaucher disease is non-neuronopathic, meaning it does not affect the brain. GD types 2 and 3 are seen around the world, but are the most common types of Gaucher disease seen outside the United States, like in Taiwan, Japan, India and Egypt. GD type 2 is the most severe and acute life-threatening form of the disease with health issues usually beginning before birth. GD type 3 is an intermediate, chronic form of the disease which causes issues not only with the spleen, liver and bones but affects the brain. Type 3 GD usually begins in childhood and is slowly progressive.
ThinkGenetic is a cutting edge tool empowering patients who want to know about possible genetic causes for their medical issues or obtain real-life answers to their questions about the impact of living with a genetic disease. ThinkGenetic will help you understand what questions to ask doctors in order to improve your medical care. Our goal is to help speed time to diagnosis and reduce chances of diagnostic error - two things that can make a significant difference to millions around the world.
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We've partnered with Genome Medical to provide you with access to trained and licensed genetic experts in all 50 states. These experts are ready to meet with you one-on-one and answer any questions you might have. Genome Medical is a nationwide medical practice focused on genetics and genomics. Their goal is to make it easier for people to access genetic experts and get the information they need to make informed decisions about their genetic health. To find out more about our partnership, click here. If you're located outside of the United States, click here.
Consultations are available anywhere in the U.S. by phone or video. During a consultation, the genetic counselor will answer your questions and take you through a comprehensive discussion to determine what steps and/or genetic tests would be appropriate for you. The cost of the consultation will vary, depending on whether an insurance claim is submitted for the service. You can make an appointment over the phone, or through an online process.
If you'd prefer, you can also submit questions to a Genetic Counselor by email. This service is provided by ThinkGenetic and is free.
COSTS AND INSURANCE COVERAGE: The actual consultation is provided by our partner, Genome Medical. Their genetic counselors are specially trained and licensed healthcare providers. The initial session typically lasts for 30 minutes. The consultation, as well as any related diagnostic tests and exams, may be covered services under your health insurance. Genome Medical can submit a claim to your health insurance directly, and if you choose this option, a visit fee of $50 will be charged upfront. There are also self-pay options. More details are available from Genome Medical. [https://www.genomemedical.com/advancedcare-billing/]
ThinkGenetic works with Genetic Counselors around the world to provide trustworthy information on genetic diseases and disorders. Our mission is to help guide individuals to the answers for their genetic questions and decrease the time it takes to get a diagnosis.