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X-linked recessive nephrolithiasis
Dent disease

  • CLCN5 (Chloride Channel)
Dent Disease encompasses several allelic syndromes characterized by renal Fanconi syndrome with low molecular weight proteinuria, hypercalciuria, nephrolithiasis (kidney stones), nephrocalcinosis (calcification of renal tissue) and progressive renal failure. CLCN5 mutation analysis is accomplished by bi-directional sequencing of the each of 11 coding CLCN5 exons and the intron/exon boundaries using genomic DNA obtained from buccal swabs or blood.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
nephrolithiasis, hypophosphatemia, VDDR, bone, renal, rickets, CLCN, nephrolithiasis, kidney stones, renal failure

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