List of diseases covered by
Amyotrophic Lateral Sclerosis NGS panel
Gene | Condition |
ALS2 | Amyotrophic lateral sclerosis 2, juvenile; Primary lateral sclerosis, juvenile; Spastic paralysis, infantile onset ascending |
ANG | Amyotrophic lateral sclerosis 9 |
CHCHD10 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Myopathy, isolated mitochondrial, autosomal dominant; Spinal muscular atrophy, Jokela type |
CHMP2B | Amyotrophic lateral sclerosis 17; Dementia, familial, nonspecific |
ERBB4 | Amyotrophic lateral sclerosis 19 |
FIG4 | Amyotrophic lateral sclerosis 11; Charcot-Marie-Tooth disease, type 4J; Yunis-Varon syndrome |
FUS | Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Essential tremor, hereditary, 4 |
MATR3 | Amyotrophic lateral sclerosis 21 |
OPTN | Amyotrophic lateral sclerosis 12 |
PFN1 | Amyotrophic lateral sclerosis 18 |
SETX | Amyotrophic lateral sclerosis 4, juvenile; Spinocerebellar ataxia, autosomal recessive 1 |
SIGMAR1 | Amyotrophic lateral sclerosis 16, juvenile; Spinal muscular atrophy, distal, autosomal recessive, 2 |
SOD1 | Amyotrophic lateral sclerosis 1 |
SPART | Troyer syndrome |
SPG11 | Amyotrophic lateral sclerosis 5, juvenile; Charcot-Marie-Tooth disease, axonal, type 2X; Spastic paraplegia 11, autosomal recessive |
SQSTM1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset; Paget disease of bone 3 |
TARDBP | Amyotrophic lateral sclerosis 10, with or without FTD; Frontotemporal lobar degeneration, TARDBP-related |
TBK1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; |
TUBA4A | Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia |
UBQLN2 | Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia |
VAPB | Amyotrophic lateral sclerosis 8; Spinal muscular atrophy, late-onset, Finkel type |
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 |