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Bloom Syndrome

£463

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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.

Bloom Syndrome

About this test

Bloom syndrome is a genetic inherited disorder characterised by a high frequency of breaks and rearrangements in an affected person's chromosomes.

People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower jaw; and prominent nose and ears.

They tend to develop pigmentation changes and dilated blood vessels in the skin, particularly in response to sun exposure. These changes often appear as a butterfly-shaped patch of reddened skin on the face. The skin changes may also affect the hands and arms.

Other features of the disorder may include intellectual disabilities, chronic lung problems, diabetes, and immune deficiency that leads to recurrent pneumonia and ear infections. Men with Bloom syndrome usually do not produce sperm, and as a result are unable to father children (infertile). Women with the disorder generally experience menopause earlier than usual.

Bloom syndrome is a very rare disorder in most populations, and its overall frequency is unknown. It is more common in people of Central and Eastern European (Ashkenazi) Jewish background, among whom 1 in 48,000 are affected. Approximately one third of people with Bloom syndrome are of Ashkenazi Jewish descent.

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 Bloom Syndrome 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 Bloom Syndrome 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 Bloom Syndrome 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 Bloom Syndrome 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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