Dent's Disease (nephrolithiasis type 1)

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

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