NL
CLDN16 - hypomagnesemia, autosomal recessive
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Hypomagnesemia, renal
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal 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:
603959
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CLDN19 - hypomagnesemia, autosomal recessive
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Hypomagnesemia, renal
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (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
OMIM:
610036
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CNNM2 - autosomal dominant hypomagnesemia
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Hypomagnesemia, renal
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal 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:
607803
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
EGF - autosomal recessive hypomagnesemia
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Hypomagnesemia, renal
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES epilepsy (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal 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:
131530
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
FXYD2 - autosomal dominant hypomagnesemia
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Hypomagnesemia, renal
This product is also part of the following panels:
- WES epilepsy (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES renal 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:
601814
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KCNA1 - hypomagnesemia with myokymia
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Hypomagnesemia, renal
This product is also part of the following panels:
- WES epilepsy (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES movement 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:
176260
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
