Inherited disorders

Last updated: Tuesday, 14, December, 2010
Key InformationAppropriate Tests

Molecular genetics testing is currently available for:

See molecular genetics - individual genetic disorders.

Charcot-Marie-Tooth disease

See Charcot-Marie-Tooth disease testing

Cystic fibrosis

Duchenne/Becker muscular dystrophy

See Muscular dystrophy

Factor V Leiden mutation

See Thrombosis.

Familial polyposis coli

See Familial polyposis coli testing

Fragile X syndrome

See Fragile X syndrome testing

Haemochromatosis

Haemoglobin variants

See Haemoglobinopathy, Haemolysis, Erythrocytosis, Cyanosis.

Mitochondrial disorders

Haemophilia

Myotonic dystrophy

See Myotonia

Sickle cell disease

See Sickle cell disorders.

Prothrombin mutation

See Thrombosis. 

Spinal muscular atrophy

Spino-bulbar muscular atrophy

Spino-cerebellar ataxia

See Ataxia.

Thalassaemia