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Glycogen Storage Disease


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check_circle1 test included
schedule5 day turnaround   info
invert_colors Venous blood sample    info
Special Instructions
Contact Medichecks prior to ordering this test online. Doctor or Consultant referral required.

Glycogen Storage Disease

About this test

Glycogen Storage Diseases are inherited metabolic disorders.

A metabolic disorder is a disease that disrupts metabolism. Metabolism is the process by which our body breaks down the food we eat and converts it to energy. Therefore, a person who has a metabolic disorder has a difficult time breaking down certain foods and creating energy.

A person with a Glycogen Storage Disease (GSD) has an absence or deficiency of one of the enzymes responsible for making or breaking down glycogen in the body. This is called an enzyme deficiency. The enzyme deficiency causes either abnormal tissue concentrations of glycogen (too much or too little) or incorrectly or abnormally formed glycogen.

Depending on the type of GSD a person has, their enzyme deficiency may be important in all parts of the body, or only in some parts of the body, like the liver or muscle.

All types of GSD cause the body to either not be able to make enough glucose, or not be able to use glucose as a form of energy. Determining what type of GSD a person has (diagnosis) depends on an individual's symptoms.

There are about eleven known types of GSD, which are classified by a number, by the name of the defective enzyme, or by the name of the doctor who first described the condition. For example, Glycogen Storage Disease type Ia, caused by a defect in the enzyme glucose-6-phosphatase, was originally known as von Gierke's Disease but is also referred to as Glucose-6-Phosphatase Deficiency Glycogen Storage Disease.

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.

Blood sample collection kit

We will send you your Glycogen Storage 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 Glycogen Storage 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 Glycogen Storage Disease test results can be downloaded for your doctor.

Secure online account with

Once you have placed your order you will receive login details to where you can manage your account, track your orders and view your Glycogen Storage 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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