Gene

PHYH - Refsum disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

PHYH - Refsum disease



€ 385

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 (% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 385