html { overflow: visible; height: auto; } .MainNav_ItemWrapper:hover .Subnavigation_Wrapper, .MainNav_Item:focus + .Subnavigation_Wrapper { display: block; } .Header-FixedHeight .Dialoog, .Header-FixedHeight .Title_Wrapper, .Accordion_ContentContainer.Hidden { height: auto !important; visibility: visible; } .Dialoog_Step.Invisible, .Title_Wrapper.Invisible, main.Invisible, .js-GridItem { transform: none; opacity: 1; } .Dialoog_Form, .js-OptionsOpenBtn, .Image_Wrapper-Scaled, .Video_Wrapper-Scaled, img[data-src] { display: none; } .js-MasonryGrid { display: flex; flex-wrap: wrap; }

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
Metabolic disorders panel
Movement disorders panel
Neuropathies 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

Add Update Remove

Go to main content

- Wijzig taal in Nederlands ( NL )

Go to Radboudumc website

- Radboudumc & MaasrichtUMC+

Refsum disease

Welcome to our new website! Find and order your test(s) of interest

[Type here]

Gene

PHYH - Refsum disease

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

Performing laboratory
Radboudumc

€ 385

View Add

PHYH - Refsum disease

GEN

complete analysis

targeted analysis of a familial mutation

€ 385

Add Update Remove

My account

This website uses cookies. Read more about cookies.