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:
- WES intellectual disability (% *)
- 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:
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:
- WES comprehensive preconception carrier test ¹
- WES Mendelian inherited disorders (% *)
- WES renal disorders (% *)
- WES short stature/skeletal dysplasia (% *)
* % 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:
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:
- WES comprehensive preconception carrier test ¹
- 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:
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:
- WES Mendelian inherited disorders (% *)
- WES renal disorders (% *)
- WES skin disorders¹ (% *)
* % 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:
139313
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane