CLCN5 - Dent disease

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Dent's Disease (nephrolithiasis type 1)

This product is also part of the following panels:

  • 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
  • Deletion/duplication analysis (MLPA)

OMIM: 300008
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410

Gene

CLCN5 - Dent disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 410

CLCN5 - Dent disease



€ 410
Gene

OCRL - Dent disease type 2

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

OCRL - Dent disease type 2



€ 509

OCRL - Dent disease type 2

This test is available for the following conditions:

  • Conditions > Renal / Nephrological > Dent's Disease (nephrolithiasis type 1)

This product is also part of the following panels:

  • Ciliopathies panel
  • Hemostatic/thrombotic disorders panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Renal disorders panel
  • 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: 300535
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509