CACNA1F - congenital stationary night blindness type 2A
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Congenital stationary night blindness
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:
300110
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GPR179 - congenital stationary night blindness type 1E, autosomal recessive
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Congenital stationary night blindness
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:
614515
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GRK1 - Oguchi disease type 2
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Congenital stationary night blindness
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:
180381
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SAG - Oguchi disease type 1
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Congenital stationary night blindness
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:
181031
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TRPM1 - congenital stationary night blindness type 1C
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Congenital stationary night blindness
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:
603576
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane