Wolfram syndrome (DIDMOAD)

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

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WFS1 - Wolfram syndrome

This test is available for the following conditions:

• Conditions > Hearing impairment > Wolfram syndrome (DIDMOAD)
• Conditions > Vision impairment / blindness > Wolfram syndrome (DIDMOAD)

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

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