Skip to main content

Search results for genetic disorder

  • Androgen insensitivity syndrome - Causes

    The genetic alteration that causes androgen insensitivity syndrome means the body cannot respond to testosterone properly.

  • Chorionic villus sampling

    Read about why chorionic villus sampling (CVS) is offered during pregnancy, how it's carried out, and what the benefits and risks are.

  • Amniocentesis

    Read about amniocentesis, a diagnostic test carried out during pregnancy to assess whether your baby could develop a genetic or chromosomal condition.

  • Hereditary spastic paraplegia

    Find out about hereditary spastic paraplegia (HSP), a rare group of inherited disorders that often cause weakness and stiffness in the leg muscles, which gradually gets worse over time.

  • Genetic and genomic testing

    Find out about genetic and genomic testing on the NHS including how it works, when it's available, what the results can show and how genetic counselling can help.

  • Prader-Willi syndrome - Diagnosis

    Find out how Prader-Willi (PWS) syndrome is diagnosed. It can usually be diagnosed using a series of genetic tests.

  • Marfan syndrome - Diagnosis

    Find out how Marfan syndrome is diagnosed. A diagnosis is usually based on a physical examination and assessment of medical and family history.

  • Antiphospholipid syndrome (APS) - Causes

    Antiphospholipid syndrome (APS) is caused by the body’s immune system producing abnormal antibodies called antiphospholipid antibodies.

  • Tuberous sclerosis

    Tuberous sclerosis, also known as tuberous sclerosis complex, is a rare genetic condition that causes mainly non-cancerous (benign) tumours to develop in different parts of the body.

  • Phenylketonuria

    Find out about phenylketonuria (PKU), a rare genetic condition that's present from birth (congenital), where the body is unable to break down phenylalanine.