DMP1 - autosomal recessive hypophosphatemic rickets

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Hypophosphatemic rickets

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: 600980
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 344

Gene

DMP1 - autosomal recessive hypophosphatemic rickets

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

DMP1 - autosomal recessive hypophosphatemic rickets



€ 344
Gene

FGF23 - autosomal dominant hypophosphatemic rickets

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 336

FGF23 - autosomal dominant hypophosphatemic rickets



€ 336

FGF23 - autosomal dominant hypophosphatemic rickets

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Hypophosphatemic rickets

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
  • 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: 193100
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

SLC34A3 - Hypophosphatemic rickets with hypercalciuria

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

SLC34A3 - Hypophosphatemic rickets with hypercalciuria



€ 385

SLC34A3 - Hypophosphatemic rickets with hypercalciuria

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Hypophosphatemic rickets

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: 609826
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 385