LRP5 - osteopetrosis, autosomal dominant 1

This test is available for the following conditions:

  • Conditions > Skeletal > Osteopetrosis

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Hearing impairment panel (including GJB2)
  • Liver disorders panel
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Renal disorders panel
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis
  • Vision 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: 603506
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 501

Gene

CLCN7 - autosomal dominant osteopetrosis type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 517

CLCN7 - autosomal dominant osteopetrosis type 2



€ 517

CLCN7 - autosomal dominant osteopetrosis type 2

This test is available for the following conditions:

  • Conditions > Skeletal > Osteopetrosis

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Primary immunodeficiencies 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: 166600
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 517
Gene

CLCN7 - autosomal recessive osteopetrosis type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 517

CLCN7 - autosomal recessive osteopetrosis type 4



€ 517

CLCN7 - autosomal recessive osteopetrosis type 4

This test is available for the following conditions:

  • Conditions > Skeletal > Osteopetrosis

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Primary immunodeficiencies 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: 602727
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 517
Gene

LRP5 - osteopetrosis, autosomal dominant 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

LRP5 - osteopetrosis, autosomal dominant 1



€ 501