NL
ABCA4 - retinitis pigmentosa type 19
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel
- Vision disorders panel
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Analysis of one or more specific deletions
"MLPA analysis will not be performed on a routine basis. Deletions are very rare (analysis of >300 patients) and the more common deletion of exon 20-22 will be tested. MLPA can be requested as separate test ."
OMIM:
601691
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
C2ORF71 - autosomal recessive retinitis pigmentosa type 54
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613425
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CERKL - autosomal recessive retinitis pigmentosa type 26
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel
- Metabolic 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:
608381
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CLN3 - autosomal recessive retinitis pigmentosa
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic 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:
204200
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CNGA1 - autosomal recessive retinitis pigmentosa type 41
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
123825
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CNGB1 - autosomal recessive retinitis pigmentosa type 45
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
609502
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CRB1 - autosomal recessive retinitis pigmentosa type 12
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
604210
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
EYS - autosomal recessive retinitis pigmentosa type 25
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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)
MLPA analysis if only one variant has been found in an autosomal recessive disease.
OMIM:
612424
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FAM161A - autosomal recessive retinitis pigmentosa type 28
This test is available for the following conditions:
- Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
613596
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
HGSNAT - autosomal recessive retinitis pigmentosa type 73
This test is available for the following conditions:
- Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders panel
- Metabolic disorders panel
- Short stature/skeletal dysplasia 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:
610453
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
IMPG2 - autosomal recessive retinitis pigmentosa type 56
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
607056
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MAK - autosomal recessive retinitis pigmentosa type 62
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
154235
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MERTK - autosomal recessive retinitis pigmentosa type 38
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
604705
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NR2E3 - autosomal recessive retinitis pigmentosa type 37
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
604485
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PDE6A - autosomal recessive retinitis pigmentosa type 43
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
180071
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PDE6B - autosomal recessive retinitis pigmentosa type 40
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
180072
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PROM1 - autosomal recessive retinitis pigmentosa type 41
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
604365
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RBP3 - autosomal recessive retinitis pigmentosa type 66
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
180290
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RDH12 - autosomal recessive retinitis pigmentosa type 53
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel
- Metabolic 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:
608830
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RGR - autosomal recessive retinitis pigmentosa type 44
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
600342
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RHO - autosomal recessive retinitis pigmentosa
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
13316
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RP1 - autosomal recessive retinitis pigmentosa
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
603937
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RPE65 - autosomal recessive retinitis pigmentosa type 2
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel
- Metabolic 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:
180069
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SEMA4A - retinitis pigmentosa type 35
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hereditary cancer panel
- Mendelian inherited 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:
607292
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TTC8 - autosomal recessive retinitis pigmentosa type 51
This test is available for the following conditions:
- Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Intellectual disability panel
- Mendelian inherited disorders 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
OMIM:
608132
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TULP1 - autosomal recessive retinitis pigmentosa type 14
This test is available for the following conditions:
- Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Ciliopathies panel
- Comprehensive preconception carrier test panel¹
- Mendelian inherited 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:
602280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
USH2A - autosomal recessive retinitis pigmentosa
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Hearing impairment panel (including GJB2)
- Mendelian inherited 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
- Analysis of one or more specific deletions
- Deletion/duplication analysis (MLPA)
MLPA analysis if only one variant has been found in an autosomal recessive disease.
OMIM:
608400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
