CDH23 - Usher syndrome type 1D
This test is available for the following conditions:
- Conditions > Hearing impairment > Usher syndrome
- Conditions > Vision impairment / blindness > Usher syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- WES hereditary cancer (% *)
- 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:
605516
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CLRN1 - Usher syndrome type 3A (USH3A)
This test is available for the following conditions:
- Conditions > Hearing impairment > Usher syndrome
- Conditions > Vision impairment / blindness > Usher syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- 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:
606397
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MYO7A - Usher syndrome type 1B
This test is available for the following conditions:
- Conditions > Hearing impairment > Usher syndrome
- Conditions > Vision impairment / blindness > Usher syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- 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:
276903
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
USH1C (HARMONIN) - Usher syndrome type 1C
This test is available for the following conditions:
- Conditions > Hearing impairment > Usher syndrome
- Conditions > Vision impairment / blindness > Usher syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- 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:
605242
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
USH1G - Usher syndrome type 1G
This test is available for the following conditions:
- Conditions > Hearing impairment > Usher syndrome
- Conditions > Vision impairment / blindness > Usher syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- 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:
607696
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
USH2A - Usher syndrome type 2A
This test is available for the following conditions:
- Conditions > Hearing impairment > Usher syndrome
- Conditions > Vision impairment / blindness > Usher syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- 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
- Analysis of one or more specific deletions
- Deletion/duplication analysis (MLPA)
MLPA analysis if only one variant has been found in an autosomal recessive disease.
OMIM:
608400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
USH2A - Usher syndroom type 2A (MLPA)
This test is available for the following conditions:
- Conditions > Hearing impairment > Usher syndrome
- Conditions > Vision impairment / blindness > Usher syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES hearing impairment (including GJB2) (% *)
- 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
- Deletion/duplication analysis (MLPA)
OMIM:
608400
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane