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




€ 385

Gene

AP2S1 - familial hypocalciuric hypercalcemia type 3

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 344

AP2S1 - familial hypocalciuric hypercalcemia type 3



€ 344

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 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




€ 344
Gene

CASR - familial hypocalciuric hypercalcemia type 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 385

CASR - familial hypocalciuric hypercalcemia type 1



€ 385
Gene

CYP24A1 - infantile hypercalcemia

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 402

CYP24A1 - infantile hypercalcemia



€ 402

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




€ 402
Gene

GNA11 - familial hypocalciuric hypercalcemia type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

GNA11 - familial hypocalciuric hypercalcemia type 2



€ 360

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




€ 360