Gene

ABCA4 - Bull's eye maculopathie

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 706

ABCA4 - Bull's eye maculopathie



€ 706

ABCA4 - Bull's eye maculopathie

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Macula dystrophy

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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
Remarks
"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




€ 706
Gene

PRPH2 - macula dystrophy / pattern dystrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 345

PRPH2 - macula dystrophy / pattern dystrophy



€ 345

PRPH2 - macula dystrophy / pattern dystrophy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Macula dystrophy

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 345
Gene

RP1L1 - occult macular dystrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 484

RP1L1 - occult macular dystrophy



€ 484

RP1L1 - occult macular dystrophy

This test is available for the following conditions:

  • Conditions > Vision impairment / blindness > Macula dystrophy

This product is also part of the following panels:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 608581
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 484