Retinitis Pigmentosa, autosomal dominant

NRL - autosomal dominant retinitis pigmentosa type 27

This test is available for the following conditions:

• Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal dominant

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 162080
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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PRPH2 - autosomal dominant retinitis pigmentosa type 7

This test is available for the following conditions:

• Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal dominant

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 179605
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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RP1 - autosomal dominant retinitis pigmentosa type 1

This test is available for the following conditions:

• Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal dominant

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 603937
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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