Muscular / Neurological disorders | Health Services Laboratories

Genetics tests: Muscular / Neurological disorders

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Test name
Amylotrophic Lateral Sclerosis (Motor Neurone Disease) NGS Panel – full gene sequencing
Ataxia NGS Panel – full gene sequencing
Becker/Duchenne Muscular Dystrophy – deletions/duplications
CADASIL – NOTCH3 gene sequencing
Charcot-Marie-Tooth Syndrome NGS Panel – full gene sequencing
Charcot-Marie-Tooth Type 1A – PMP22 duplications
Comprehensive Neuropathy NGS Panel – full gene sequencing
Duchenne Muscular Dystrophy – deletions/duplications only
Duchenne Muscular Dystrophy – full sequencing DMD1 gene
Epilepsy, Adolescent/Adult Onset Panel – sequencing + deletions/duplications
Epilepsy, Comprehensive NGS Panel – full sequencing + deletions/duplications
Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion
Friedreich Ataxia – frataxin gene repeat analysis
Hereditary Spastic Paraplegia Comprehensive NGS Panel – full gene sequencing + deletions/duplications
HLA Tissue Typing Narcolepsy – DQB1*06:02
Huntington Disease – HD gene repeat analysis PCR
Joubert/Meckel-Gruber Syndrome NGS Panel – full gene sequencing
Kennedy Disease (Spinal Bulbar Muscular Atrophy) – AR repeat expansion
Limb-Girdle Muscular Dystrophy (LGMD) NGS Panel – full gene sequencing
Mitochondrial genome – full mitochondrial DNA sequencing + deletions
Mitochondrial genome sequencing
Motor Neurone Disease (Amylotrophic Lateral Sclerosis) NGS Panel – full gene sequencing
Myotonic Dystrophy Type 1 – DMPK repeat PCR
Myotonic Dystrophy Type 2 (PROMM) – ZNF9 repeat PCR
Narcolepsy (HLA DQB1*06:02)
Oculopharyngeal Muscular Dystrophy – PABPN1 repeat analysis
POLG-Related Disorders – full POLG sequencing + deletions and duplications
Pontocerebellar Hypoplasia NGS Panel – full gene sequencing
Spinocerebellar Ataxia – multiplex SCA1+2+3+6+7+17 common repeat expansions
Spinocerebellar Ataxia NGS Panel – full gene sequencing
Torsion Dystonia (DYT1) – TOR1A common variant c.904-906delGAG

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