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Gaucher Disease
Alternate Names : Glucosylceramide Storage Disease, GSDI
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Gaucher Disease Diagnosis & Tests
Evaluation:
Genetic Testing:
Genetic testing is performed by obtaining bone marrow or blood. Tests are designed to assess enzyme functional activity and/or obtain and sequence DNA to look for certain mutations.
Genetic testing is an extremely complicated personal decision that should be considered for a variety of reasons including, to advise siblings or other relatives in families of diagnosed patients, or to confirm a diagnosis in a patient with symptoms.
Testing can also determine if parents carry the gene that could pass Gaucher's disease. By virtue of Gaucher's disease being a recessive disease, offspring of two parental carriers have a 25% chance of inheriting two abnormal copies of the gene.
Testing is complicated by the fact that the disease expression is extremely variable, and patients that test positive may not show signs and symptoms of the disease.
Therefore, routine testing is not recommended and may be disadvantageous, as this information may have to be revealed to insurance companies. A prenatal test can also tell if the fetus has Gaucher syndrome.
In every circumstance, genetic counseling should be available to anyone considering genetic testing for this disease.
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• Definition
• Gaucher Disease Overview, Causes, & Risk Factors
• Gaucher Disease Symptoms & Signs
• Gaucher Disease Prevention
• Gaucher Disease Diagnosis & Tests
• Gaucher Disease Treatment
• Gaucher Disease Prognosis
• Gaucher Disease Complications
• Calling Your Health Care Provider
• Pictures & Images
Topics that might be of interest to you Diseases & Conditions
• Anemia
• Strabismus
• Thrombocytopenia
Tests & Exams
• Biopsy
• Bone Marrow Aspiration
• X-Ray - Skeleton
Surgery & Procedures
• Spleen Removal
Other Topics
• Central Nervous System
• Hepatomegaly
• Movement - Uncoordinated
• Muscle Function Loss
• Seizures
Review Date : 3/1/2002
Reviewed By : Chayim Y. Newmark M.D., Department of Pediatrics, St. Louis Children's Hospital, St. Louis, MO. Review provided by VeriMed Healtchare Network.
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