New NGS gene panels

Albinism, Cornelia de Lange Syndrome, BH4 deficiency, Parkinson disease, dystonia, and ataxia

Albinism NGS gene panel
The panel includes 18 genes divided into two subpanels (please see the website/analyses for a list of the genes): Panel 1 includes the six genes most frequently associated with albinism. Panel 2 includes 12 genes associated with conditions with related clinical features. The price for the first panel which is run is 15,000 DKK (2,027 Euros). If one panel is already run, the following panel costs 7,000 DKK (946 Euros)

Genetic testing for Cornelia de Lange Syndrome (CdLS) using NGS
The gene panel is divided into two subpanels (please see the website/analyses for a list of the genes):

1. The CdLS panel includes the five known genes associated with CdLS
   
   
2. The CdLS differential diagnosis panel includes three genes associated with syndromes with clinical features overlapping with those of CdLS

The price for the first panel which is run is 15,000 DKK (2,027 Euros). The price of the following panel is 7,000 DKK (946 Euros)

Mutation screening for BH4 deficiency by NGS
The BH4 gene panel is a subpanel of the large movement disorder panel (please see below). The BH4 gene panel includes five genes associated with BH4 deficiency.

The price for the BH4 panel is 15,000 DKK (2,027 Euros).

Movement disorder NGS gene panel
This large gene panel (106 genes) is divided into three subpanels (please see the website/analyses for a list of the genes):

• The Parkinson disease panel includes 45 genes associated with Parkinson disease, Parkinson-dystonia, or NBIA (Neurodegeneration with Brain Iron Accumulation)
  
  
• The Dystonia panel includes 47 genes associated with dystonia, Parkinson-dystonia, or NBIA
  
  
• The Ataxia panel includes 52 genes associated with ataxia, or NBIA

The price for the first of these panels which is run is 21,500 DKK (2905 Euros). If one or two panels are already run, the following panel cost(s) 10,000 DKK (1351 Euros)