FOXI1 - Pendred syndrome
This test is available for the following conditions:
- Conditions > Hearing impairment > Pendred 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 renal 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:
601093
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC26A4 - Pendred syndrome
This test is available for the following conditions:
- Conditions > Hearing impairment > Pendred 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 (% *)
* % 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 if only one variant has been found in an autosomal recessive disease.
OMIM:
605646
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC26A4 - Pendred syndrome (MLPA)
This test is available for the following conditions:
- Conditions > Hearing impairment > Pendred 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 (% *)
* % 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:
605646
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane