BEST1 - vitelliform macula dystrophy type 2

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Vitelliform Macular Dystrophy

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: 607854
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410

Gene

BEST1 - vitelliform macula dystrophy type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

BEST1 - vitelliform macula dystrophy type 2



€ 410
Gene

IMPG1 - vitelliform macula dystrophy type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 451

IMPG1 - vitelliform macula dystrophy type 4



€ 451

IMPG1 - vitelliform macula dystrophy type 4

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Vitelliform Macular Dystrophy

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: 602870
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 451
Gene

IMPG2 - vitelliform macula dystrophy type 5

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

IMPG2 - vitelliform macula dystrophy type 5



€ 459

IMPG2 - vitelliform macula dystrophy type 5

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Vitelliform Macular Dystrophy

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: 607056
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 459