Neuromuscular Disorders

Neuromuscular disorders (NMDs) are a clinically, pathologically, and genetically heterogeneous group of diseases that impair muscle function or the peripheral nervous system and result in muscle weakness. Our large neuromuscular genetic test menu offers genetic testing for various NMDs and has been developed by our expert PhD team. PreventionGenetics offers genetic tests and panels for various neuromuscular conditions including Amyotrophic Lateral Sclerosis (ALS), Parkinson Disease, Muscular Dystrophy and much more. Accurate genetic testing is imperative for diagnosis, informed treatment decisions and identifying other family members that may be at risk.

CMA

Amyotrophic Lateral Sclerosis (ALS)

Arthrogryposis

Ataxia

Ataxia-Oculomotor Apraxia

CADASIL

Charcot Marie Tooth

Collagenopathy

Congenital Myopathies

Congenital Myopathy

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

Distal Hereditary Myopathy

Dystonia

Dystrophinopathies

Fraser Syndrome

Frontotemporal Dementia

Glutaric Acidemia

Glycogen Storage Disease

Hemiplegic Migraine

Joubert Syndrome

L1 Syndrome

Leukoencephalopathy

Limb-Girdle Muscular Dystrophy

Malignant Hyperthermia

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance

Methylmalonic Acidemia

Muscular Dystrophy

Myasthenic Syndrome

Myopathy

Myotonia Congenita

Neuroaxonal Dystrophy

Neurodegeneration

Neuromuscular Disorders

Neuropathy

Oculopharyngeal Muscular Dystrophy

Parkinson Disease

Periodic Paralysis

Spastic Paraplegia

Spinal Muscular Atrophy

Spinal and Bulbar Muscular Atrophy

ORDER
Test Kits

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Custom Panel

METHOD KEY

Sequencing with CNV
PGxome
Sequencing with CNV
PG-Select
CNV via aCGH
Sanger Sequencing
MLPA
Repeat Expansion
Other