Genetic testing
Genetic testing can give you vital information if you're planning a family, or if you or your partner has a genetic disorder.
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What is a congenital disorder?
Congenital disorder, also known as congenital disease or birth defects, are conditions present from birth. Find out more about congenital disorders.
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Marfan syndrome
This condition affects tissue that strengthens and stabilises joints and muscles. People with Marfan syndrome are often tall and long-limbed.
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Angelman syndrome
A rare syndrome causing physical and intellectual disability. It can’t be cured, but some therapies can improve the quality of life of those affected.
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Duchenne muscular dystrophy
DMD, the most common muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.
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Huntington's disease
Huntington's affects the nervous system and worsens over time. Symptoms include difficulty controlling limbs and cognitive and emotional changes.
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Guide to genetic disorders
Problems with genes can cause health or development problems. Some genetic disorders affect people from birth, others develop later in life. Learn more from a trusted source.
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Brugada syndrome
Brugada syndrome can disrupt your heart rhythm, causing palpitations, fainting or in serious cases, cardiac arrest. Read about symptoms and treatment.
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Thalassaemia
This inherited blood disorder prevents someone from making enough healthy haemoglobin to carry oxygen around the body, but it may not need treatment.
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Muscular dystrophy
Muscular dystrophy is a group of inherited diseases that cause muscle weakness. Learn more about the different types and treatment options.
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