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Sidst opdateret: 16/11 2017
Parkinson disease
Contact: RH-Kennedy-medgenlab
Analysis

Method

Indicative turnaround time

Material
and
delivery

Mutation screening – gene panels

Next Generation
Sequencing (NGS)

Parkinson disease gene panel (45 genes):
Genes associated with Parkinson disease, Parkinson-Dystonia, or NBIA (Neurodegeneration with Brain Iron accumulation): ADH1C; ATP1A3; ATP6AP2; ATP13A2; C19ORF12; COASY; CP; CYP27A1;  DBH; DCAF17; DCTN1; DNAJC6, EIF4G1; FA2H; FBXO7; FTL; GAMT; GBA; GBA2; GCH1; GIGYF2; GJB1; HEPACAM; HTRA2; KCNMA1; LRRK2; MAPT; PANK2; PARK2; PARK7; PINK1; PLA2G6;  PRKRA; PTS; SLC2A1; SLC6A3;  SLC20A2; SNCA; SPR;  SYNJ1; TAF1; TH; UCHL1; VPS35; WDR45

This gene panel is part of a larger movement disorder gene panel which is divided into three panels: Parkinson disease panel, dystonia panel, and ataxia panel. However when ordering the Parkinson disease panel only the genes in this subpanel are analysed.

For information about the genes in the larger movement disorder gene panel, please click here.

5 - 6 months

6 ml EDTA blood (small children 1-3 ml)

or extracted genomic DNA


Sent by courier or ordinary mail to Medical Genetics Laboratory, Kennedy Center, Gl. Landevej 7, DK-2600 Glostrup, Denmark

Mutation screening – single gene(s)*
(GCH1, PTS, SPR, TH)

Sanger sequencing and
for GCH1 MLPA

2 - 3 months

- do -

Carrier analysis / analysis for specified mutation

Sanger sequencing or
MLPA

1 - 2 months

- do -

Prenatal diagnosis

Only after contact to the Laboratory

Contact: mailto:RH-Kennedy-medgenlab@regionh.dk

* Accredited by DANAK (The Danish Accreditation Fund) DS/EN ISO 15189:2013