Skip to main content

Search results for genetic disorder

  • 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.

  • Rickets and osteomalacia - Causes

    Rickets usually occurs because of a lack of vitamin D or calcium, although it can also be caused by a genetic defect or another health condition.

  • Amniocentesis - Why it's offered

    Read about amniocentesis, a diagnostic test that may be offered to detect a serious or potentially serious condition in your baby.