AP2S1 - familial hypocalciuric hypercalcemia type 3
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Familial Hypocalciuric Hypercalcemia
This product is also part of the following panels:
- Intellectual disability / developmental delay 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:
602242
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CASR - familial hypocalciuric hypercalcemia type 1
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Familial Hypocalciuric Hypercalcemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
- Short stature/skeletal dysplasia panel with genome wide CNV analysis
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601199
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CYP24A1 - infantile hypercalcemia
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Familial Hypocalciuric Hypercalcemia
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- 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:
126065
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
GNA11 - familial hypocalciuric hypercalcemia type 2
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Familial Hypocalciuric Hypercalcemia
This product is also part of the following panels:
- Mendelian inherited disorders panel with genome wide CNV analysis
- Renal disorders panel
- Skin disorders panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
139313
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane