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Gaucher Disease

£325

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check_circle1 test included
schedule7 day turnaround   info
invert_colors Venous blood sample    info
Special Instructions
Contact Medichecks prior to ordering this test online. Doctor or Consultant referral required.

Key benefits

1

Accurate tests
from accredited laboratories

2

Easy-to-use
test kits you can do at home

3

Confidential results
provided securely online

4

Qualified doctors
will interpret your results

Gaucher Disease

About this test

Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain.

The buildup of this fatty material within cells prevents the cells and organs from functioning properly. Gaucher disease is one of several lipid storage diseases.

There are three types of Gaucher disease.

Type 1 Gaucher disease - Patients with type 1 usually bruise easily and experience fatigue due to anaemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. Symptoms can appear at any age.

Type 2 Gaucher disease - Patients with type 2 have enlarged liver and spleen which is apparent by 3 months of age. Patients have extensive and progressive brain damage and usually die by 2 years of age.

Type 3 Gaucher disease - The liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent.

All Gaucher patients exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside.

How it works

Collect Sample

We send you an easy-to-use kit to collect your blood sample.

Post Sample

Post your sample to our lab in the prepaid envelope provided.

View Results

View results securely in your own personal dashboard.

Important Information

Our tests are not a substitute for seeing your doctor, especially if you are suffering symptoms. Our doctors will interpret your results based on the information you have provided, but will not diagnose, consult or provide any treatment. You will be advised to see your doctor for any necessary follow-up action.

Tests Included

Blood sample collection kit

We will send you your Gaucher Disease blood test sample collection kit together with the details of a convenient clinic where you can go and have your sample taken.

Postage & packaging

Your Gaucher Disease test includes 1st class postage and packaging for you to send your blood sample directly to our laboratory for analysis. If you live in an area where you cannot rely on the post or you simply want to ensure that your sample arrives at the laboratory the following day, you may wish to send your blood sample guaranteed next day delivery for extra reassurance.

Private laboratory analysis

Your blood sample will be analysed at one of our chosen laboratories. You can be assured of fast, accurate results from one of our accredited independent providers of clinical diagnostic tests.

Interpretation of results

Our medical team will comment on out-of-range blood test results and give you follow-up advice where necessary. If you need it, a PDF copy of your Gaucher Disease test results can be downloaded for your doctor.

Secure online account with mymedichecks.com

Once you have placed your order you will receive login details to mymedichecks.com where you can manage your account, track your orders and view your Gaucher Disease test results.

Health and Lifestyle tracker

Stay motivated by filling in your online health and lifestyle questionnaire and seeing how improvements in your lifestyle can influence your test results. Your medical and family history gives us vital information when interpreting your results.

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