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ABHD5 - Chanarin-Dorfman syndrome ¹

This test is available for the following conditions:

Conditions > Skin > Chanarin-Dorfman syndrome

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Intellectual disability panel with genome wide CNV analysis
Mendelian inherited disorders panel with genome wide CNV analysis
Metabolic disorders panel
Skin disorders panel¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 604780
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 369

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- Wijzig taal in Nederlands ( NL )

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- Radboudumc & MaasrichtUMC+

Chanarin-Dorfman syndrome

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Gene

ABHD5 - Chanarin-Dorfman syndrome ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Maastricht UMC+

€ 369

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ABHD5 - Chanarin-Dorfman syndrome ¹

GEN

complete analysis

targeted analysis of a familial mutation

€ 369

Add Update Remove

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