NL
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
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
