METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other
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
Prader-Willi Syndrome
Spastic Paraplegia
Spinal Muscular Atrophy
Spinal and Bulbar Muscular Atrophy
METHOD KEY
- Sequencing with CNVPGxome
- Sequencing with CNVPG-Select
- CNV via aCGH
- Sanger Sequencing
- MLPA
- Repeat Expansion
- Other