Gene

CLCN5 - Dent disease

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

CLCN5 - Dent disease



€ 410

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:

  • WES Mendelian inherited disorders (96.5% **)
  • WES renal disorders (96.5% **)
  • WES short stature/skeletal dysplasia (96.5% **)

** % 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
  • Deletion/duplication analysis (MLPA)

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




€ 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:

  • WES ciliopathies (98.3% **)
  • WES intellectual disability (98.3% **)
  • WES Mendelian inherited disorders (98.3% **)
  • WES metabolic disorders (98.3% **)
  • WES renal disorders (98.3% **)
  • WES vision disorders (98.3% **)

** % 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: 300535
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509