NL
AIPL1 - Leber congenital amaurosis type 4
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
604392
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CEP290 - Leber congenital amaurosis type 10 (NPHP6)
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES ciliopathies (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal disorders (100.0% *)
- WES short stature/skeletal dysplasia (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
610142
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CRB1 - Leber congenital amaurosis type 8
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
604210
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GUCY2D - Leber congenital amaurosis type 1
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
600179
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LCA5 - Leber congenital amaurosis type 5
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES ciliopathies (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
611408
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
LRAT - Leber congenital amaurosis type 14
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
604863
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NMNAT1 - Leber congenital amaurosis type 9
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (97.7% *)
- WES metabolic disorders (97.7% *)
- WES short stature/skeletal dysplasia (97.7% *)
- WES vision disorders (97.7% *)
* % 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:
608700
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RDH12 - Leber congenital amaurosis type 13
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
608830
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RPE65 - Leber congenital amaurosis type 2
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES metabolic disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
180069
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
RPGRIP1 - Leber congenital amaurosis type 6
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
605446
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SPATA7 - Leber congenital amaurosis type 3
This test is available for the following conditions:
- Conditions > Vision impairment / blindness > Leber Congenital Amaurosis
This product is also part of the following panels:
- WES ciliopathies (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (100.0% *)
- WES vision disorders (100.0% *)
* % 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:
609868
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
