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.

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.

Thalassaemia

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

Brugada syndrome

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

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.

Williams syndrome

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

Tuberous sclerosis

Tuberous sclerosis affects parts of the body, behaviour and thinking. If you notice symptoms you should see a doctor, but there are ways to manage the disease.

Porphyria

Porphyria is caused by problems with red blood cells and has wide range of symptoms. Find out about management and treatment options.

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.

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.

Turner syndrome

This genetic disorder involves sensory, developmental and hormonal symptoms, but most girls and women with Turner syndrome enjoy a normal life.

Muscular dystrophy

Muscular dystrophy is a group of diseases affecting the muscles that control movement. Learn more about the different types and treatment options.

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.

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 and gluten intolerance

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

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.

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.

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.

Haemophilia

Haemophilia stops blood from clotting properly, causing abnormal bleeding. It’s best managed by a multidisciplinary team of health professionals.

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.

Apert syndrome

Apert syndrome is a rare condition that causes an abnormally shaped skull and fused fingers and toes. Other body parts and organs are also affected. Surgery and other treatments can, however, help development.

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Search results for: "Genetic Testing"

Life stage

Genetic testing

Marfan syndrome

Duchenne muscular dystrophy

Haemochromatosis

Guide to genetic disorders

Thalassaemia

Brugada syndrome

Worried about your memory or dementia?

Williams syndrome

Tuberous sclerosis

Porphyria

Long QT syndrome

Lynch syndrome

Huntington's disease

Conn's syndrome

Albinism

Neurofibromatosis

Turner syndrome

Muscular dystrophy

Edwards syndrome (Trisomy 18)

Ehlers-Danlos syndrome

Noonan syndrome

Dwarfism

Coeliac disease and gluten intolerance

Granulomas

Angelman syndrome

Tay-Sachs disease

Haemophilia

Charcot-Marie-Tooth disease

Apert syndrome

Life stage

Genetic testing

Marfan syndrome

Duchenne muscular dystrophy

Haemochromatosis

Guide to genetic disorders

Thalassaemia

Brugada syndrome

Worried about your memory or dementia?

Williams syndrome

Tuberous sclerosis

Porphyria

Long QT syndrome

Lynch syndrome

Huntington's disease

Conn's syndrome

Albinism

Neurofibromatosis

Turner syndrome

Muscular dystrophy

Edwards syndrome (Trisomy 18)

Ehlers-Danlos syndrome

Noonan syndrome

Dwarfism

Coeliac disease and gluten intolerance

Granulomas

Angelman syndrome

Tay-Sachs disease

Haemophilia

Charcot-Marie-Tooth disease

Apert syndrome

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