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Genetic Test Details

Tubulopathies, including nephrocalcinosis Panel

Test Information

Titre
Tubulopathies, including nephrocalcinosis Panel
Catégorie
Renal
Sub Category
Hereditary Chronic Kidney Disease
Gene/Platform/Region List
AGXT, AIRE, ALPL, AMMECR1, AP2S1, APRT, AQP2, ATP1A1, ATP6V0A4, ATP6V1B1, AVP, AVPR2, BCS1L, BSND, CA2, CACNA1D, CACNA1H, CACNA1S, CASR, CDC73, CDKN1B, CLCN2, CLCN5, CLCNKA, CLCNKB, CLDN10, CLDN16, CLDN19, CNNM2, CPT2, CTNS, CUL3, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP24A1, CYP27B1, CYP2R1, DMP1, EHHADH, ENPP1, FAH, FAM111A, FAM20A, FAM20C, FGF23, FOXI1, FXYD2, GALNT3, GATA3, GATM, GCM2, GLA, GNA11, GNAS, GRHPR, HNF1B, HNF4A, HOGA1, HPRT1, HSD11B2, HSD3B2, KCNA1, KCNJ1, KCNJ10, KCNJ16, KCNJ5, KLHL3, LCAT, LRP2, MAGED2, MEN1, MMUT, MOCOS, NDUFAF6, NR3C1, NR3C2, OCRL, PCBD1, PDE3A, PHEX, PTH, PTH1R, REN, RET, RMND1, RRAGD, RRM2B, SARS2, SCN4A, SCNN1A, SCNN1B, SCNN1G, SEC61A1, SLC12A1, SLC12A3, SLC22A12, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC5A2, SLC6A1, SLC7A7, SLC7A9, STRADA, STX16, TBCE, TRPM6, TRPM7, UMOD, VDR, VIPAS39, VPS33B, WDR72, WNK1, WNK4, XDH
Test type
Gene Panel
Samples Accepted
Blood, DNA
Indications
Carrier Cascade Testing, Diagnostics
Test Methodology
CNV, Sequencing
Disease/Condition
Tubolopathies, Nephrocalcinosis

Dernière Mise à Jour: 04 juin 2026