Gene

GJB2 - autosomal dominant keratitis-icthyosis-deafness sydrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

GJB2 - autosomal dominant keratitis-icthyosis-deafness sydrome



€ 344

GJB2 - autosomal dominant keratitis-icthyosis-deafness sydrome

This test is available for the following conditions:

  • Conditions > Hearing impairment > Keratitis-ichthyosis-deafness syndrome
  • Conditions > Skin > Keratitis-ichthyosis-deafness syndrome

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
  • 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
Remarks
Including deletion PCR GJB6

OMIM: 121011
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344