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How does a doctor confirm that you have Gaucher's disease?

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If your doctor thinks you may have Gaucher's disease, he can confirm it with a blood test. He'll also do tests regularly to track the condition. You may have an MRI (magnetic resonance imaging) scan to see if your liver or spleen is swollen. You might also get a bone density test to check for any loss of bone.

When Gaucher's disease runs in your family, blood or saliva tests can help you find out if you could pass the disease to your child.

From: Gaucher Disease WebMD Medical Reference

SOURCES:

National Institute of Neurological Disorders and Stroke: "What is Gaucher Disease?"

Genetics Home Reference: "Gaucher disease."

National Gaucher Foundation: "About Gaucher Disease."

Kliegman, R.M.   19th edition, Saunders Elsevier, 2011. Nelson Textbook of Pediatrics,

National Human Genome Research Institute: "Learning About Gaucher Disease."

Orphanet: "Gaucher disease - ophthalmoplegia - cardiovascular calcification."

Weinreb, N.J.  , December 2008. American Journal of Hematology

Gauchers Association: "Living with Gaucher Disease."

Reviewed by Sabrina Felson on November 07, 2018

SOURCES:

National Institute of Neurological Disorders and Stroke: "What is Gaucher Disease?"

Genetics Home Reference: "Gaucher disease."

National Gaucher Foundation: "About Gaucher Disease."

Kliegman, R.M.   19th edition, Saunders Elsevier, 2011. Nelson Textbook of Pediatrics,

National Human Genome Research Institute: "Learning About Gaucher Disease."

Orphanet: "Gaucher disease - ophthalmoplegia - cardiovascular calcification."

Weinreb, N.J.  , December 2008. American Journal of Hematology

Gauchers Association: "Living with Gaucher Disease."

Reviewed by Sabrina Felson on November 07, 2018

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Can enzyme replacement therapy treat Gaucher's disease?

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