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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.
We send you an easy-to-use kit to collect your blood sample.
Post your sample to our lab in the prepaid envelope provided.
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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.
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.
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.
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.
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.
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.
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