ABHD12 - polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

This test is available for the following conditions:

  • Conditions > Neurological > Polyneuropathy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Movement disorders panel
  • Neuropathies panel¹
  • Vision disorders panel

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks

Method

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

OMIM: 613599
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 435
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Gene

ABHD12 - polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract

Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435
View Add

ABHD12 - polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract


€ 435
Add