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 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:
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 / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- Short stature/skeletal dysplasia 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:
610453
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
IDH3B - Retinitis pigmentosa, autosomal recessive
This test is available for the following conditions:
- Conditions > Metabolic disorders > Retinitis Pigmentosa, autosomal recessive
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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:
604526
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
- Hypogonadotropic hypogonadism (Kallmann) panel
- Intellectual disability / developmental delay panel with genome wide CNV analysis
- Mendelian inherited disorders 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
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 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:
602280
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane