METHOD KEY

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

Neuromuscular Disorders

CMA

Amyotrophic Lateral Sclerosis (ALS)

Arthrogryposis

Ataxia

Ataxia-Oculomotor Apraxia

CADASIL

Charcot Marie Tooth

Coenzyme Q10 Deficiency

Collagenopathy

Congenital Myopathies

Congenital Myopathy

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

Distal Hereditary Myopathy

Dystonia

Dystrophinopathies

Fetal Akinesia Deformation Sequence

Fraser Syndrome

Frontotemporal Dementia

Glutaric Acidemia

Glycogen Storage Disease

Hemiplegic Migraine

Joubert Syndrome

L1 Syndrome

Lethal Multiple Pterygium 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

Prader-Willi Syndrome

Spastic Paraplegia

Spinal Muscular Atrophy

Spinal and Bulbar Muscular Atrophy

METHOD KEY

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