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Facioscapulohumeral Muscular Dystrophy


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check_circle1 test included
schedule60 working day turnaround   info
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Special Instructions
Contact Medichecks prior to ordering this test online. Doctor or Consultant referral required.

Facioscapulohumeral Muscular Dystrophy

About this test

Facioscapulohumeral Muscular Dystrophy, FSHD, is the second most common form of muscular dystrophy in adults and the third most common genetic hereditary disease seen in skeletal muscle.

Facioscapulohumeral Muscular Dystrophy occurs in both males and females, and it can affect children and adults of all ages and all racial groups.

The degree of weakness or disability can vary quite widely between different affected members in a family, but can show even greater variation between people in different families. For some, it can result in weakness not only of facial muscles and shoulders/upper arms, but also of additional combinations from the neck, forearms, wrists, fingers, hips, legs, ankles and the back muscles.

Around 10-20% of people eventually require a wheelchair, but by contrast, up to one third remain unaware of symptoms at least into old age, although may well have subtle detectable clinical signs. The majority of people come between these two extremes. The average severity of presentation in a family, or in a single case, seems to correlate with the smallness of the number of copies of the DNA repeat sequence which remain (i.e. the fewer copies left, the greater is the severity).

In general, the most severely affected people tend to be the ones who have the altered genetic instruction for the first time in the family, and where the symptoms of weakness are evident from early childhood.

The Facioscapulohumeral Muscular Dystrophy test looks for the deletions with the D4Z4 repeat locus.

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 Facioscapulohumeral Muscular Dystrophy 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 Facioscapulohumeral Muscular Dystrophy 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 Facioscapulohumeral Muscular Dystrophy 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 Facioscapulohumeral Muscular Dystrophy 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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