genetic disorders

Newborn bloodspot screening

Newborn screening tests are part of a worldwide practice to detect rare but serious health problems (genetic or metabolic disorders)

What is Klinefelter syndrome?

Klinefelter syndrome is a genetic disorder where a male, instead of having just an X and a Y chromosome, has

Down syndrome

What is Down syndrome? Down syndrome is a disorder of our genetic material and currently is the most common cause

Muscular dystrophies of latter onset

What is Muscular Dystrophy? Muscular Dystrophy is a general designation of a group of chronic, hereditary disease characterised by the

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