NL
EYA1 - branchio-oto-renal dysplasia
This test is available for the following conditions:
- Conditions > Hearing impairment > BOR syndrome (Branchio-Oto-Renal dysplasia)
- Conditions > Renal / Nephrological > BOR syndrome (Branchio-Oto-Renal dysplasia)
This product is also part of the following panels:
- Craniofacial anomalies panel
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Orofacial clefting panel
- Renal 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
- Deletion/duplication analysis (MLPA)
OMIM:
601653
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SIX1 - branchio-oto-renal dysplasia
This test is available for the following conditions:
- Conditions > Hearing impairment > BOR syndrome (Branchio-Oto-Renal dysplasia)
- Conditions > Renal / Nephrological > BOR syndrome (Branchio-Oto-Renal dysplasia)
This product is also part of the following panels:
- Craniofacial anomalies panel
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel
- Orofacial clefting panel
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601205
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SIX5 - branchio-oto-renal dysplasia
This test is available for the following conditions:
- Conditions > Hearing impairment > BOR syndrome (Branchio-Oto-Renal dysplasia)
- Conditions > Renal / Nephrological > BOR syndrome (Branchio-Oto-Renal dysplasia)
This product is also part of the following panels:
- Craniofacial anomalies panel
- Hearing impairment panel (including GJB2)
- Mendelian inherited disorders panel
- Orofacial clefting panel
- Renal 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:
600963
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
