Inherited disorders

Key Information

Appropriate Tests

Molecular genetics testing is currently available for:

See Molecular genetics - genetic disorders.

Additional information about genetic tests is available in the RCPA Catalogue of Genetic Tests and Laboratories.

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 test.

Hereditary haemochromatosis


Haemoglobin variants

See Haemoglobinopathy, Haemolysis, Polycythaemia (erythrocytosis), Cyanosis.

Mitochondrial disorders




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.



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