FZD4 - dominant familial exudative vitreoretinopathy
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy
This product is also part of the following panels:
- WES Mendelian inherited disorders (% *)
- WES vision disorders (% *)
* % 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:
604579
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LRP5 - dominant familial exudative vitreoretinopathy
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES renal disorders (% *)
- WES short stature/skeletal dysplasia (% *)
- WES vision disorders (% *)
* % 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:
603506
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LRP5 - recessive familial exudative vitreoretinopathy
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES renal disorders (% *)
- WES short stature/skeletal dysplasia (% *)
- WES vision disorders (% *)
* % 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:
603506
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NDP - X-linked familial exudative vitreoretinopathy
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy
This product is also part of the following panels:
- WES hearing impairment (including GJB2) (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES vision disorders (% *)
* % 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
- Deletion/duplication analysis (MLPA)
MLPA analysis only if patient is a woman.
OMIM:
300658
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TSPAN12 - familial exudative vitreoretinopathy
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES vision disorders (% *)
* % 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:
613138
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
ZNF408 - dominant familial exudative vitreoretinopathy
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Exsudative Vitreoretinopathy
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES vision disorders (% *)
* % 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:
616468
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane