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Search results for genetic disorder

  • Prader-Willi syndrome

    Find out about Prader-Willi syndrome (PWS), which is a rare genetic condition that causes a wide range of physical symptoms, learning difficulties and behavioural challenges.

  • Huntington's disease - Tests

    If you have symptoms of Huntington's disease, your GP will refer you to a neurologist. Genetic testing can confirm a diagnosis if necessary.

  • MCADD

    MCADD is a rare genetic condition where a person has problems breaking down fat for energy. Read about the symptoms, causes and outlook.

  • 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.

  • Hereditary neuropathy with pressure palsies (HNPP)

    Read about hereditary neuropathy with pressure palsies (HNPP), an inherited nerve disorder that typically causes numbness, tingling and muscle weakness.

  • 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.

  • Edwards' syndrome (trisomy 18)

    Edwards' syndrome, also known as trisomy 18, is a serious genetic condition caused by an additional copy of chromosome 18 in some or all of the cells in the body.