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PHYH - Refsum disease

This test is available for the following conditions:

Conditions > Vision impairment / blindness > Refsum disease

This product is also part of the following panels:

Comprehensive preconception carrier test panel¹
Heart disorders panel¹
Mendelian inherited disorders panel with genome wide CNV analysis
Metabolic disorders panel
Movement disorders panel
Polyneuropathies panel¹
Skin disorders panel¹
Vision disorders panel

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

Method

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

OMIM: 602026
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

GEN

complete analysis

targeted analysis of a familial mutation

€ 385

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- Wijzig taal in Nederlands ( NL )

Go to Radboudumc website

- Radboudumc & MaasrichtUMC+

Refsum disease

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Gene

PHYH - Refsum disease

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

Performing laboratory
Radboudumc

€ 385

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PHYH - Refsum disease

GEN

complete analysis

targeted analysis of a familial mutation

€ 385

Add Update Remove

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