BOR syndrome (Branchio-Oto-Renal dysplasia)

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

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

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