Search results for: Genetic Testing

Genetic testing

Genetic testing can give you information if you're planning a family, or if you or your partner has a genetic disorder. Learn when counselling can help.

Marfan syndrome

Marfan syndrome is a genetic condition that causes a loss of elastic tissue. Find out about the symptoms and treatments for Marfan syndrome.

Guide to genetic disorders

Genetic issues impact many aspects of health and development. Some affect people from birth, while others develop later in life. Read on for details.

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.

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.

Thalassaemia

This inherited blood disorder prevents someone from making enough haemoglobin to carry oxygen around the body. Find out more about the types and symptoms of thalassaemia.

Turner syndrome

Turner syndrome is a genetic disorder caused by a missing or partially missing X chromosome. Find out more about its symptoms and treatments here.

Angelman syndrome

Angelman syndrome is a genetic condition that causes intellectual disability. It can't be cured, but therapy can improve your quality of life.

Huntington's disease

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

Family health history

Knowing your family medical history is important. It can guide you in making changes that will reduce your risk of developing a hereditary condition.

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.

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.

Fabry disease

Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptoms. Learn more here.

Gilbert's syndrome

Gilbert’s syndrome is an inherited liver disorder causing bilirubin buildup and jaundice episodes. It’s generally harmless and doesn’t need treatment.

Muscular dystrophy

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

Brugada syndrome

Brugada syndrome is a genetic condition that causes problems with your heart rhythm. Find out here about the symptoms, causes and treatment.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare genetic condition that can cause an limitless appetite. Read more about the symptoms and treatments.

Ehlers-Danlos syndrome

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

Primary aldosteronism

Primary aldosteronism is a condition where you make too much of the hormone aldosterone — find out about the symptoms, causes and treatments.

What is a congenital disorder?

Congenital disorders are health conditions that are present from birth. They are also called birth differences, congenital anomalies or birth defects.

Cystic fibrosis (CF)

Cystic fibrosis (CF) is a genetic disease that affects many body organs, including lungs and digestive system. Learn about CF symptoms and treatments.

Sickle cell anaemia

Sickle cell anaemia is the most common and serious form of sickle cell disease. Read more about sickle cell anaemia and how it is treated.

Porphyria

Porphyria is caused by problems with red blood cells. It has a wide range of symptoms making it hard to diagnose. Learn how it's managed and treated.

Craniosynostosis

Read about craniosynostosis — when the seams between the bones in your baby's skull close too early, causing an abnormal head shape.

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.

Rett syndrome

Rett syndrome causes intellectual and physical disability. It’s been described relatively recently, so it’s not known how it progresses to middle age.

Granulomas

A granuloma is a cluster of white blood cells and other tissue. Find out more about granulomas, what causes them and how they are treated.

Spinal muscular atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic disease that causes your muscles to become weaker. Learn more about the 5 different types of SMA.

Long QT syndrome

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

Amyloidosis

Amyloidosis is a group of diseases that can affect the brain, heart, joints or kidneys. Learn about causes, diagnosis and treatment.

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Search results for: "Genetic Testing"

Life stage

Genetic testing

Marfan syndrome

Guide to genetic disorders

Duchenne muscular dystrophy

Coeliac disease

Thalassaemia

Turner syndrome

Angelman syndrome

Huntington's disease

Family health history

Lynch syndrome

Tuberous sclerosis

Fabry disease

Gilbert's syndrome

Muscular dystrophy

Brugada syndrome

Prader-Willi syndrome

Ehlers-Danlos syndrome

Primary aldosteronism

What is a congenital disorder?

Cystic fibrosis (CF)

Sickle cell anaemia

Porphyria

Craniosynostosis

Albinism

Rett syndrome

Granulomas

Spinal muscular atrophy (SMA)

Long QT syndrome

Amyloidosis

Life stage

Genetic testing

Marfan syndrome

Guide to genetic disorders

Duchenne muscular dystrophy

Coeliac disease

Thalassaemia

Turner syndrome

Angelman syndrome

Huntington's disease

Family health history

Lynch syndrome

Tuberous sclerosis

Fabry disease

Gilbert's syndrome

Muscular dystrophy

Brugada syndrome

Prader-Willi syndrome

Ehlers-Danlos syndrome

Primary aldosteronism

What is a congenital disorder?

Cystic fibrosis (CF)

Sickle cell anaemia

Porphyria

Craniosynostosis

Albinism

Rett syndrome

Granulomas

Spinal muscular atrophy (SMA)

Long QT syndrome

Amyloidosis

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