Neurology

Topics

Angelman Syndrome and Prader-Willi Syndrome
Biotinidase Deficiency
Classic Galactosemia
Early-Onset Alzheimer's Disease
Fragile X (FMR1)-Associated Disorders
Hereditary Nonsyndromic Hearing Loss - Connexin 26 or 30
Huntington Disease
Laboratory Testing for Developmental Delay, Intellectual Disability, and Autism Spectrum Disorder
Primary Brain Tumors – Brain Tumor Molecular Markers
X-Linked Adrenoleukodystrophy

Test Fact Sheets

1p/19q Deletion in Oligodendrogliomas
Angelman Syndrome and Prader-Willi Syndrome by Methylation-Specific MLPA
Apolipoprotein E (APOE) Genotyping, Alzheimer Disease Risk
Apolipoprotein E Genotyping, Cardiovascular Disease Risk
Autism and Intellectual Disability Comprehensive Panel
Biotinidase Deficiency (BTD) Sequencing
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CADASIL (NOTCH3), Sequencing
Cerebral Cavernous Malformation Panel, Sequencing and Deletion/Duplication
Charcot-Marie-Tooth Disease and Related Hereditary Neuropathies
Cobalamin/Propionate/Homocysteine Metabolism-Related Disorders Panel
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication
Distal Arthrogryposis Panel
Early-Onset Alzheimer's Panel, Sequencing
Familial Transthyretin Amyloidosis (TTR) Sequencing
Fragile X (FMR1) With Reflex to Methylation Analysis
Gaucher Disease
Hereditary Central Nervous System Cancer Panel, Sequencing and Deletion/Duplication
Hereditary Hearing Loss - GJB2 and GJB6 Testing
Hereditary Paraganglioma-Pheochromocytoma Panels
Holoprosencephaly Panel, Sequencing and Deletion/Duplication
Huntington Disease (HD) CAG Repeat Expansion
Neurofibromatosis Type 1 and Legius Syndrome Panel, Sequencing and Deletion/Duplication
Peroxisomal Disorders Panel, Sequencing
Tay-Sachs Disease (HEXA) Sequencing and Deletion/Duplication
Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication
Very Long-Chain and Branched-Chain Fatty Acids Profile
Whole Genome Sequencing