Search results for: Genetic Testing

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.

Marfan syndrome

This condition affects tissue that strengthens and stabilises joints and muscles. People with Marfan syndrome are often tall and long-limbed.

Duchenne muscular dystrophy

DMD, the commonest muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.

Haemochromatosis

Haemochromatosis causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.

Thalassaemia

This inherited blood disorder prevents someone from making enough healthy haemoglobin to carry oxygen around the body, but it may not need treatment.

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.

Worried about your memory or dementia?

You might be worried that you or a family member has dementia. Learn the early signs of dementia and how to raise concerns with your doctor.

Brugada syndrome

This condition can disrupt the rhythm of your heart. It can cause palpitations, fainting or, in serious cases, cardiac arrest.

Williams syndrome

Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.

Muscular dystrophy

Muscular dystrophy is a group of inherited diseases that cause muscle weakness. Learn more about the different types and treatment options.

Porphyria

Porphyria is caused by problems with red blood cells and has a wide range of symptoms. Discover how it's managed and treated.

Long QT syndrome

Long QT syndrome (LQTS) is a disorder of the heart's electrical system that can cause fast, chaotic heartbeats, called arrhythmias.

Lynch syndrome

Lynch syndrome, formerly known as HNPCC, is a genetic condition that increases the risk of a person developing some cancers, such as bowel cancer. Learn more here.

Huntington's disease

Huntington's affects the nervous system and worsens over time. Symptoms include difficulty controlling limbs, and cognitive and emotional changes.

Conn's syndrome

Conn's syndrome is a condition where the body makes too much of the hormone aldosterone. It’s a common cause of hypertension but it can be managed and treated.

Tuberous sclerosis

Tuberous sclerosis is a rare genetic disease that may affect many parts of your body, behaviour and thinking. There’s no cure, but it can be treated.

Edwards syndrome (Trisomy 18)

Edwards syndrome, also called Trisomy 18, is a genetic disorder in babies that causes severe disability. It is caused by an extra copy of chromosome 18.

Ehlers-Danlos syndrome

People with Ehlers-Danlos have very loose joints and easily bruised or stretchy skin. Symptoms can be managed, but the risk of injury is increased.

Albinism

Albinism is a group of genetic conditions. People with albinism have no or very little colour in their hair, skin and eyes so sun protection is vital.

Neurofibromatosis

Neurofibromatosis is a manageable genetic condition characterised by benign tumours. Learn about its symptoms, diagnosis and treatment options.

Noonan syndrome

Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.

Dwarfism

Most people with dwarfism lead relatively long, healthy lives; the main problem they face is discrimination. For others, there are health issues to be aware of.

Coeliac disease

People with coeliac disease can't eat foods containing gluten. Find out how coeliac disease can affect your life and why it's important to get diagnosed.

Craniosynostosis

Craniosynostosis is a birth defect in which the seams (sutures) between the bones in a newborn baby's skull close too early. It can be treated.

A granuloma is a tiny cluster of white blood cells and other tissue, and is found in the lungs, head, skin or elsewhere. Granulomas are not cancerous; they form as a reaction to, for example, infections or foreign objects.

Sickle cell anaemia

Sickle cell anaemia is the most common and serious form of sickle cell disease, in which the body produces too many unstable red blood cells.

Cri du chat syndrome

Cri du chat (Cry of the cat) syndrome is a rare genetic disorder that causes delayed physical development, a small head size and intellectual disability. Learn more here, including why the condition has this name.

Prader-Willi syndrome

Adults with Prader-Willi may experience sleeping and breathing problems, and have an insatiable appetite, which can lead to life-threatening obesity.

Tay-Sachs disease

Babies/children with Tay-Sachs develop slowly, lose vision and speech, and typically don’t reach school age. It’s commoner in certain genetic groups.

Charcot-Marie-Tooth disease

This group of genetic conditions affects the nervous system, usually the hand and foot muscles first. It worsens, but some therapies are effective.

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Search results for: "Genetic Testing"

Life stage

Genetic testing

Marfan syndrome

Duchenne muscular dystrophy

Haemochromatosis

Thalassaemia

Guide to genetic disorders

Worried about your memory or dementia?

Brugada syndrome

Williams syndrome

Muscular dystrophy

Porphyria

Long QT syndrome

Lynch syndrome

Huntington's disease

Conn's syndrome

Tuberous sclerosis

Edwards syndrome (Trisomy 18)

Ehlers-Danlos syndrome

Albinism

Neurofibromatosis

Noonan syndrome

Dwarfism

Coeliac disease

Craniosynostosis

Granulomas

Sickle cell anaemia

Cri du chat syndrome

Prader-Willi syndrome

Tay-Sachs disease

Charcot-Marie-Tooth disease

Life stage

Genetic testing

Marfan syndrome

Duchenne muscular dystrophy

Haemochromatosis

Thalassaemia

Guide to genetic disorders

Worried about your memory or dementia?

Brugada syndrome

Williams syndrome

Muscular dystrophy

Porphyria

Long QT syndrome

Lynch syndrome

Huntington's disease

Conn's syndrome

Tuberous sclerosis

Edwards syndrome (Trisomy 18)

Ehlers-Danlos syndrome

Albinism

Neurofibromatosis

Noonan syndrome

Dwarfism

Coeliac disease

Craniosynostosis

Granulomas

Sickle cell anaemia

Cri du chat syndrome

Prader-Willi syndrome

Tay-Sachs disease

Charcot-Marie-Tooth disease

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