POU3F4 - X-linked deafness type 3 (DFN3)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, X-linked

This product is also part of the following panels:

  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis

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

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Analysis of one or more specific deletions
  • Deletion/duplication analysis (MLPA)

OMIM: 300039
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336

Gene

POU3F4 - X-linked deafness type 3 (DFN3)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

POU3F4 - X-linked deafness type 3 (DFN3)



€ 336
Gene

SMPX - X-linked deafness type 4 (DFN4)

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

SMPX - X-linked deafness type 4 (DFN4)



€ 344

SMPX - X-linked deafness type 4 (DFN4)

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, X-linked

This product is also part of the following panels:

  • Hearing impairment panel (including GJB2)
  • Mendelian inherited disorders panel with genome wide CNV analysis

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

Method

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

OMIM: 300226
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344
Gene

TIMM8A - X-linked deafness type 1 (DFN1) / Mohr-Tranebjaerg syndrome

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 327

TIMM8A - X-linked deafness type 1 (DFN1) / Mohr-Tranebjaerg syndrome



€ 327

TIMM8A - X-linked deafness type 1 (DFN1) / Mohr-Tranebjaerg syndrome

This test is available for the following conditions:

  • Conditions > Hearing impairment > Deafness, X-linked

This product is also part of the following panels:

  • Hearing impairment panel (including GJB2)
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel
  • Movement disorders panel
  • 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: 300356
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 327