GTR Home > Tests > Parkinson-Alzheimer-Dementia NGS Panel

Methodology

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Test development

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Genes

GeneAlleleHGVSIdentifierCondition
A2M (12p13.31)Alpha-2-macroglobulin deficiency
Alzheimer disease 2
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer's disease
AAAS (12q13.13)Glucocorticoid deficiency with achalasia
ACE (17q23.3)Alzheimer's disease
Hemorrhage, intracerebral, susceptibility to
Microvascular complications of diabetes 3
Renal dysplasia
APOE (19q13.32)Age-related macular degeneration 1
Alzheimer disease 2
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer's disease
Lipoprotein glomerulopathy
Sea-blue histiocyte syndrome
APP (21q21.3)Alzheimer disease 2
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer's disease
Cerebral amyloid angiopathy, APP-related
ATP13A2 (1p36.13)Parkinson disease 9
ATP1A3 (19q13.2)Alternating hemiplegia of childhood 2
Dystonia 12
CSF1R (5q32)Hereditary diffuse leukoencephalopathy with spheroids
DCTN1 (2p13.1)Amyotrophic lateral sclerosis type 1
Charcot-Marie-Tooth disease dominant intermediate 3
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease, type IA
Charcot-Marie-Tooth disease, type IE
Congenital hypomyelinating neuropathy
Dejerine-Sottas disease
Distal hereditary motor neuronopathy type 7B
Hereditary liability to pressure palsies
Perry syndrome
DNMT1 (19p13.2)Cerebellar ataxia, deafness, and narcolepsy
Hereditary sensory neuropathy type IE
EIF4G1 (3q27.1)Parkinson disease 18
FBXO7 (22q12.3)Parkinson disease 15
GBA (1q22)Acute neuronopathic Gaucher's disease
Gaucher disease type 3C
Gaucher disease, perinatal lethal
Gaucher's disease, type 1
Lewy body dementia
Parkinson disease
Subacute neuronopathic Gaucher's disease
GCH1 (14q22.2)Dystonia 5, Dopa-responsive type
GTP cyclohydrolase I deficiency
Langer mesomelic dysplasia syndrome
GRN (17q21.31)Ceroid lipofuscinosis, neuronal, 11
Frontotemporal dementia
Frontotemporal dementia, ubiquitin-positive
HTRA2 (2p13.1)Parkinson disease 13
LRRK2 (12q12)Parkinson disease 6, autosomal recessive early-onset
Parkinson disease 8, autosomal dominant
MAPT (17q21.31)Alzheimer disease 2
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer's disease
Frontotemporal dementia
Frontotemporal dementia, ubiquitin-positive
Parkinson disease
Parkinson-dementia syndrome
Pick's disease
Progressive supranuclear ophthalmoplegia
MPO (17q22)Alzheimer's disease
Myeloperoxidase deficiency
PARK2 (6q26)Leprosy 2
Lung cancer
Neoplasm of ovary
Parkinson disease 2
PARK7 (1p36.23)Parkinson disease 7
PINK1 (1p36.12)Parkinson disease 6, autosomal recessive early-onset
Parkinson disease 8, autosomal dominant
PLA2G6 (22q13.1)Infantile neuroaxonal dystrophy
Neurodegeneration with brain iron accumulation 2b
Parkinson disease 14
POLG (15q26.1)Mitochondrial DNA depletion syndrome 4B, MNGIE type
Progressive external ophthalmoplegia
PRKRA (2q31.2)Dystonia 16
PRNP (20p13)Alzheimer's disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Jakob-Creutzfeldt disease
Kuru, susceptibility to
Spongiform encephalopathy with neuropsychiatric features
PSEN1 (14q24.2)Acne inversa, familial, 3
Alzheimer disease 2
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer's disease
Cardiomyopathy, dilated, 1u
Frontotemporal dementia
Pick's disease
PSEN2 (1q42.13)Alzheimer disease 2
Alzheimer disease, type 3
Alzheimer disease, type 4
Alzheimer's disease
Dilated cardiomyopathy 1V
SLC6A3 (5p15.33)Attention deficit hyperactivity disorder
Infantile Parkinsonism-dystonia
Major affective disorder 1
Tobacco addiction, susceptibility to
SNCA (4q22.1)Lewy body dementia
Parkinson disease 1
Parkinson disease 4
SNCB (5q35.2)Lewy body dementia
TAF1 (Xq13.1)Dystonia 3, torsion, X-linked
TH (11p15.5)Dystonia 5, Dopa-responsive type
Segawa syndrome, autosomal recessive
TREM2 (6p21.1)Alzheimer's disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
TYROBP (19q13.12)Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
UCHL1 (4p13)Parkinson disease 5
VPS35 (16q11.2)Parkinson disease 17

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