List of diseases covered by
Parkinson’s Disease NGS panel

Gene Condition
ADH1C Parkinson disease, susceptibility to
ATP1A3 Alternating hemiplegia of childhood 2; CAPOS syndrome; Dystonia-12
ATP13A2 Parkinson disease 9;
Spastic paraplegia 78, autosomal recessive
ATP6AP2 Parkinsonism with spasticity, X-linked;
Mental retardation, X-linked, syndromic, Hedera type
ATXN2 Parkinson disease, late-onset, susceptibility to;
Spinocerebellar ataxia 2
DCTN1 Neuropathy, distal hereditary motor, type VIIB; Perry syndrome;
Amyotrophic lateral sclerosis, susceptibility to
DNAJC6 Parkinson disease 19a, juvenile-onset
EIF4G1 Parkinson disease 18
FBXO7 Parkinson disease 15, autosomal recessive
FTL Neurodegeneration with brain iron accumulation 3;
Hyperferritinemia-cataract syndrome;
L-ferritin deficiency, dominant and recessive
GBA Parkinson disease, late-onset, susceptibility to;
Lewy body dementia, susceptibility to; Gaucher disease, type I;
Gaucher disease, type II; Gaucher disease, type III; Gaucher disease, type IIIc;
Gaucher disease, perinatal lethal
GCH1 Dystonia, DOPA-responsive,
with or without hyperphenylalaninemia; Hyperphenylalaninemia, BH4-deficient, B
GIGYF2 Parkinson disease 11
HTRA2 Parkinson disease 13;
3-methylglutaconic aciduria, type VIII
LRRK2 Parkinson disease 8
MAPT Dementia, frontotemporal, with or without parkinsonism;
Parkinson disease, susceptibility to; Pick disease;
Supranuclear palsy, progressive; Supranuclear palsy, progressive atypical
PARK7 Parkinson disease 7, autosomal recessive early-onset
PINK1 Parkinson disease 6, early onset
PLA2G6 Parkinson disease 14, autosomal recessive;
Neurodegeneration with brain iron accumulation 2B;
Infantile neuroaxonal dystrophy 1
PRKN Parkinson disease, juvenile, type 2
PRKRA Dystonia 16
SLC6A3 Parkinsonism-dystonia, infantile
SLC30A10 Hypermanganesemia with dystonia 1
SNCA Parkinson disease 1; Parkinson disease 4;
Dementia, Lewy body
SNCB Dementia, Lewy body
SPR Dystonia, dopa-responsive,
due to sepiapterin reductase deficiency
SYNJ1 Parkinson disease 20, early-onset;
Epileptic encephalopathy, early infantile, 53
TAF1 Dystonia-Parkinsonism, X-linked;
Mental retardation, X-linked, syndromic 33
TBP Parkinson disease, susceptibility to;
Spinocerebellar ataxia 17
TH Segawa syndrome, recessive
UCHL1 Parkinson disease 5, susceptibility to;
Spastic paraplegia 79, autosomal recessive
VPS35 Parkinson disease 17