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NPC1 - Niemann-Pick disease type C1

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Intellectual disability / developmental delay panel with genome wide CNV analysis
Liver disorders panel
Mendelian inherited disorders panel with genome wide CNV analysis
Metabolic disorders panel
Movement disorders panel

OMIM: 607623
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 761

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