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CISD2 - Wolfram syndrome type 2
This test is available for the following conditions:
- Conditions > Hearing impairment > Wolfram syndrome (DIDMOAD)
- Conditions > Vision impairment / blindness > Wolfram syndrome (DIDMOAD)
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
- Mitochondrial 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:
611507
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
WFS1 - Wolfram syndrome
This test is available for the following conditions:
- Conditions > Hearing impairment > Wolfram syndrome (DIDMOAD)
- Conditions > Vision impairment / blindness > Wolfram syndrome (DIDMOAD)
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Hearing impairment panel (including GJB2)
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
606201
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
