METHOD KEY

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

Neurologic Disorders

CMA

Acyl-CoA Dehydrogenase Deficiency

Agnathia-Otocephaly Complex

Aicardi-Goutieres Syndrome

Alzheimer's Disease

Amyloidosis

Amyotrophic Lateral Sclerosis (ALS)

Ataxia

Ataxia-Oculomotor Apraxia

Autism Spectrum Disorders

BBB Syndrome

Benign familial infantile epilepsy

Brain Malformations

Brown-Vialetto-Van Laere Syndrome

CADASIL

CADASIL and CARASIL

CHARGE Syndrome

Cerebral Cavernous Malformations

Cerebral Small Vessel Diseases

Ceroid Lipofuscinoses

Charcot Marie Tooth

Chromosomal Instability Syndromes

Congenital Central Hypoventilation syndrome

Congenital Myopathy

Copper Metabolism Disorders

Dementia

Dentatorubral-Pallidoluysian Atrophy (DRPLA)

Developmental Delay

Distal Hereditary Myopathy

Dystonia

Dystrophinopathies

Epilepsy

Episodic ataxia

Familial Hemiplegic Migraine 1

Fazio-Londe Disease

Fragile X Syndrome

Frontotemporal Dementia

Galloway-Mowat Syndrome

Glutaric Acidemia

Greig Cephalopolysyndactyly Syndrome

Hemiplegic Migraine

Hirschsprung Disease

Holoprosencephaly

Huntington Disease

Hydrocephalus

Hyperammonemia

Hypoglycemia

Intellectual Disability

Joubert Syndrome

Kallmann Syndrome

L1 Syndrome

Leukodystrophy

Leukoencephalopathy

Lissencephaly

Lysosomal Storage Disorders

Macrocephaly

Methylmalonic Acidemia

Microcephaly

Mitochondrial Disorders

Muscular Dystrophy

Neuroaxonal Dystrophy

Neurodegeneration

Neurofibromatosis

Neuropathy

Opitz G

Organic Acidurias

Osteodysplasia

Pallister-Hall Syndrome

Parkinson Disease

Peroxisomal Disorders

Pontocerebellar Hypoplasia

Porphyria

Prader-Willi Syndrome

Premature Ovarian Failure (POF1)

Rasopathies

Rett Syndrome

Rett Syndrome, Angelman Syndrome and Variant Syndromes

Schwannomatosis

Septo-optic Dysplasia

Spastic Paraplegia

Stuttering

Tay-Sachs Disease (GM2 Gangliosidosis Type 1)

Tuberous Sclerosis

Warburg Micro Syndrome

Wolfram Syndrome

METHOD KEY

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