Neurology and neuromuscular disorders

NHSE funded test referrals should be in accordance with the National Genomic Test Directory for rare disease and meet eligibility criteria: National Genomic Test Directory - NHS England.

Testing for previously identified familial variants, as clinically appropriate, is available.

Neuromuscular disorders

• R80 Congenital Myasthenic Syndromes
• R73 Duchenne or Becker muscular dystrophy
• R378 Duchenne or Becker muscular dystrophy linkage testing in families
• R72 Myotonic dystrophy Type 1
• R410 Myotonic dystrophy Type 2

Neurodegenerative disorders

• R68 Huntington disease
• R383 Huntington disease exclusion testing by linkage
• R58 Adult onset neurodegenerative disorders, including ALS & MND
• R54 Hereditary ataxia with onset in adulthood
• R55 Hereditary ataxia with onset in childhood and R84 Cerebellar anomalies (same gene panel)

Other neurological disorders

• R59 Early onset or syndromic Epilepsy
• R66 Paroxysmal central nervous system disorders
• R87 Cerebral malformations
• R84 Cerebellar anomalies and R55 Hereditary ataxia with onset in childhood (same gene panel)

Research

The laboratory works closely with Professor David Beeson's research group at the Weatherall Institute of Molecular Medicine, University of Oxford, who provide functional studies of variants in genes associated with congenital myasthenia syndrome.