NL
SLC34A1 - nephrolithiasis / hypophosphatemic osteoporosis type 1
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrolithiasis/osteoporosis, hypophosphatemic
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:
182309
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SLC9A3R1 - nephrolithiasis / hypophosphatemic osteoporosis type 2
This test is available for the following conditions:
- Conditions > Renal / Nephrological > Nephrolithiasis/osteoporosis, hypophosphatemic
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
604990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
