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