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