Gene

FAM161A - autosomal recessive retinitis pigmentosa type 28

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 369

FAM161A - autosomal recessive retinitis pigmentosa type 28



€ 369

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




€ 369
Gene

HGSNAT - autosomal recessive retinitis pigmentosa type 73

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 459

HGSNAT - autosomal recessive retinitis pigmentosa type 73



€ 459

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 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




€ 459
Gene

IDH3B - Retinitis pigmentosa, autosomal recessive

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

IDH3B - Retinitis pigmentosa, autosomal recessive



€ 725

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




€ 725
Gene

TTC8 - autosomal recessive retinitis pigmentosa type 51

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 443

TTC8 - autosomal recessive retinitis pigmentosa type 51



€ 443

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 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




€ 443
Gene

TULP1 - autosomal recessive retinitis pigmentosa type 14

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 435

TULP1 - autosomal recessive retinitis pigmentosa type 14



€ 435

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




€ 435