Carrier DNA tests for Gaucher Disease
What is Gaucher's Disease? Gaucher disease is a direct result of the buildup of fatty substances within the body, specifically the liver and spleen. This buildup causes the affected organs to enlarge and not function normally. This fatty substance accumulation can also occur within the bone tissue. Not only does it weaken the bone, but it also increases the risk of fractures. If the bone marrow is affected, it can potentially affect the blood's ability to clot. But what causes Gaucher's disease? Individuals suffering from Gaucher's disease do not have the enough of the enzyme needed to effectively break down these fatty substances within their bodies. Diagnosis of Gaucher's Disease Gaucher disease is inherited disorder that's found mostly commonly in Jewish people of Central European descent. Gaucher disease is diagnosed through a blood test. A person's carrier status can be determined through their saliva or blood. Carrier DNA Tests For Gaucher Disease If you are considering having a baby, your physician may recommend that you undergo genetic testing so that an accurate diagnosis can be made. An enzyme analysis measures the glucocerebrosidase activity within your leukocytes, urine or fibroblasts. People suffering from Gaucher disease will have significantly low levels of enzyme activity. There are four common genetic mutations of the GC gene to include:- N370S
- L44P
- 84gg
- IVS2 (+1)
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