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:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
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:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
- Vision disorders panel
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:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
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:
- Comprehensive preconception carrier test panel¹
- Epilepsy panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
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:
- Epilepsy panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
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:
- Epilepsy panel
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
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
