Medicare Eligible? Explore Your Reproductive Carrier Test Options.
Medicare Eligible? Explore Your Reproductive Carrier Test Options.
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Condition: Gaucher Disease
Gene: GBA
Inheritance pattern: Autosomal recessive (AR)
Gaucher Disease is a complex genetic disorder affecting the breakdown of fatty chemicals. Explore this condition, understand its types, genetic implications, and options for informed reproductive planning.
Gaucher Disease, a common lysosomal storage disorder, arises due to insufficient enzymes that break down Glucocerebroside—a fatty chemical. Fat-laden Gaucher cells accumulate in organs like the spleen, liver, and bone marrow, leading to diverse symptoms among affected individuals.
Type 1: Non-neuronopathic Gaucher Disease
Type 2: Neuronopathic Gaucher Disease
Type 3: Neuronopathic Gaucher Disease
Carriers have a genetic variation in one "GBA" gene, experiencing no symptoms themselves. If both partners are carriers, there's a 25% (1 in 4) chance of having an affected child. Genetics influence families, necessitating awareness and testing discussions among relatives.
Ethnicity influences carrier rates. Mainly affecting Ashkenazi Jews, Gaucher Disease's carrier rate is 1 in 15 for this group. Across ethnicities, the rate is 1 in 158.
Pre-pregnancy, screening options include in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). During pregnancy, tests diagnose genetic status as early as the 11th week. Clinical examination confirms diagnosis after pregnancy.
Though there's no cure, management approaches exist:
Prognosis varies. Type 1 Gaucher Disease's prognosis depends on severity and diagnosis timing. Type 2 and Perinatal lethal Gaucher Disease often have limited treatment options, while Type 3 involves a shortened lifespan.
Carrier screening is an essential option for those who want to understand the chance of having a child with Gaucher Disease. Eugene’s reproductive carrier screening test is designed to let couples and individuals know if they are carriers of GBA as well as more than 560 other genetic conditions. This information supports people to make informed decisions about their family planning and pregnancy care options. Eugene’s Genetic Counsellors support you before, during and after results and are available to help you make the best decision based on your values and needs.
Explore the latest reproductive carrier screening options fully supported by our genetic counsellors.
More information and resources:
Brain Foundation Australia - https://brainfoundation.org.au/disorders/gaucher-disease
Genetics Home Reference - https://ghr.nlm.nih.gov/condition/gaucher-disease#inheritance