List of diseases covered by Parkinson Disease NGS panel

Published 06/04/2018

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
CHCHD2 Parkinson disease 22, autosomal dominant
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
RAB39B Mental retardation, X-linked 72; Waisman syndrome
SLC6A3 Parkinsonism-dystonia, infantile
SLC30A10 Hypermanganesemia with dystonia 1
SNCA Parkinson disease 1; Parkinson disease 4;
Dementia, Lewy body
SNCB Dementia, Lewy body
SPG11 Amyotrophic lateral sclerosis 5, juvenile;
Charcot-Marie-Tooth disease, axonal, type 2X;
Spastic paraplegia 11, autosomal recessive
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
VPS13C Parkinson disease 23, autosomal recessive, early onset

Parkinson Disease NGS panel

Published 22/03/2016

Parkinson’s Disease
NGS panel

Genes
(full
coding region):		 ADH1C, ATP1A3, ATP13A2, ATP6AP2, ATXN2, CHCHD2, DCTN1, DNAJC6, DNAJC13, EIF4G1, FBXO7, FTL, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK7, PINK1, PLA2G6, PODXL, PRKN, PRKRA, PTRHD1, RAB39B, SLC6A3, SLC30A10, SNCA, SNCB, SPG11, SPR, SYNJ1, TAF1, TBP (excluding exon 3), TH, TMEM230, UCHL1, VPS35, VPS13C

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Order here

or download sample submission form

Deletion/duplication analysis

Genes: ATP13A2, GCH1, LRRK2, PARK7, PINK1, PRKN, SNCA, UCHL1
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Order here

or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Determination of differential diagnosis
3. Genetic counseling

Parkinson’s disease (PD) is a progressive neurodegenerative disorder mainly affecting the motor system. PD is characterized by tremor, rigidity, bradykinesia, poor balance, and difficulty with walking. Non-motor findings include insomnia, depression, anxiety, behavioral problems, at a later stage of the disease psychosis and dementia may occur.

PD is most commonly a non-Mendelian disorder resulting from the effects of multiple genes as well as environmental risk factors. Mendelian forms of PD are inherited in an autosomal dominant, autosomal recessive, or, rarely, X-linked manner. The most common sporadic form of PD manifests around age 60, however, young-onset and juvenile-onset are seen.

References:

Davie CA. A review of Parkinson’s disease. 2008. Br. Med. Bull. 86 (1): 109–27.
Farlow J et al. Parkinson Disease Overview. GeneReviews® 2004 May 25 (Updated 2014 Feb 27).