List of diseases covered by
Frontotemporal Dementia NGS panel
Gene | Condition |
ABCA7 | Alzheimer disease 9, susceptibility to |
APOE | Alzheimer disease-2 |
APP | Alzheimer disease 1, familial; Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants |
CHMP2B | Dementia, familial, nonspecific; Amyotrophic lateral sclerosis 17 |
GRN | Frontotemporal lobar degeneration with ubiquitin-positive inclusions; Ceroid lipofuscinosis, neuronal, 11 |
CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids |
FUS | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Essential tremor, hereditary, 4 |
ITM2B | Dementia, familial British; Dementia, familial Danish; Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities |
MAPT | Dementia, frontotemporal, with or without parkinsonism; Pick disease; Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical |
PRNP | Cerebral amyloid angiopathy, PRNP-related; Creutzfeldt-Jakob disease; Huntington disease-like 1; Insomnia, fatal familial; Prion disease with protracted course |
PSEN1 | Alzheimer disease, type 3, with spastic paraparesis and apraxia; Dementia, frontotemporal; Pick disease; Cardiomyopathy, dilated, 1U |
PSEN2 | Alzheimer disease-4; Cardiomyopathy, dilated, 1V |
SIGMAR1 | Amyotrophic lateral sclerosis 16, juvenile; Spinal muscular atrophy, distal, autosomal recessive, 2 |
SNCA | Dementia, Lewy body; Parkinson disease 1; Parkinson disease 4 |
TARDBP | Frontotemporal lobar degeneration, TARDBP-related; Amyotrophic lateral sclerosis 10, with or without FTD |
TBK1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
TREM2 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 |
TUBA4A | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
UBE3A | Angelman syndrome |
UBQLN2 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia |
VCP | Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Charcot-Marie-Tooth disease, type 2Y; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 |