Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis

Incidence and onset information

Researches and researchers

Doctors, researchs, and experts related to Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis extracted from public data.

Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis Experts map

Current Researchs and researchers

• GRENOBLE — Pr Joël LUNARDI

  Responsible for diagnostic tests - Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — Département de biochimie, toxicologie et pharmacologie, CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
  • Research area/topic::
    

    Physiopathological studies of Lowe's syndrome and Dent's disease, two clinical entities with common molecular basis?



• BARCELONA — Dr Elisabet ARS CRIACH

  Genetic counsellor - Responsible for diagnostic tests - Investigator of research project - Director of department
  
  

  • Institution/s:
    — Fundació Puigvert
  • Research area/topic::
    

    Genomic study of early-onset nephropathies

Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypophosphatemic Rickets Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 100 %
Hypophosphatemic Rickets Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 100 %
Exome PLUS Proteinuria/FSGS & Hematuria. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA , (...) View the complete list with 12 more genes Panel complete gene list CFB, TRPC6, TSC1, TSC2, C1QA, C1QC, WT1, C3, NPHS2, ADAMTS13, ACTN4, PLCE1, CLCN5, COL4A3, COL4A4, COL4A5, INF2, DGKE, ALMS1, GLA, CFH, CFHR1, CFI, ITGB4, APOL1, LAMB2, LMX1B, CD46, MYH9, MYO1E, NPHS1, PAX2 Close Specificity 4 % Genes 100 %
ExomePLUS Electrolyte & Kidney Stone. By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States). SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS , (...) View the complete list with 28 more genes Panel complete gene list SCNN1A, SCNN1B, SLC12A1, SLC12A3, SLC2A2, VDR, WNK4, CASR, BSND, CDC73, SLC22A12, CLCN5, CLCNKB, SLC34A3, CLDN16, CLDN19, FAM20C, FAM20A, HOGA1, CTNS, CUL3, CYP11B2, CYP24A1, ENPP1, AGXT, FAH, FGF23, GALNT3, GATA3, GCM2, GNA11, GNAS, GRHPR, HPRT1, HSD11B2, AP2S1, KCNJ1, APRT, AQP2, KLHL3, NR3C2, OCRL, ATP6V1B1, ATP6V0A4, PHEX, AVP, AVPR2, PTH Close Specificity 3 % Genes 100 %
CLCN5 Gene Sequencing. By GeneDx (United States). CLCN5 Specificity 100 % Genes 100 %
CLCN5. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). CLCN5 Specificity 100 % Genes 100 %
Dent disease type I (sequence analysis of CLCN5 gene). By CGC Genetics (Portugal). CLCN5 Specificity 100 % Genes 100 %
Rickets (NGS panel for 10 genes). By CGC Genetics (Portugal). VDR, CLCN5, SLC34A3, CYP2R1, CYP27B1, DMP1, ENPP1, FGF23, ALPL, PHEX Specificity 10 % Genes 100 %

Sources and references

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