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 HaemoglobinopathyHaemolysisErythrocytosisCyanosis.

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