NL
CEP290 - senior Løker Syndrome type 6
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Senior-Loken syndrome
- Conditions > Vision impairment / blindness > Senior-Loken syndrome
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
IQCB1 - Senior-Loken syndrome type 5
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Senior-Loken syndrome
- Conditions > Vision impairment / blindness > Senior-Loken syndrome
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 renal 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:
609237
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
NPHP1 - Senior-Loken syndrome type 1
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Senior-Loken syndrome
- Conditions > Vision impairment / blindness > Senior-Loken syndrome
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 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
- Deletion/duplication analysis (MLPA)
OMIM:
607100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
