Genetics Test Information

This test utilizes next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 302 genes associated with hereditary kidney disease: ABCC6, ACE, ACTN4, ADAMTS13, ADCY10, AGT, AGTR1, AGXT, AHI1, ALG1, ALG8, ALG9, ALMS1, ALPL, ANKS6, ANLN, ANOS1, APOA1, APOE, APOL1 [Chr22(GRCh37]:g.36661895-36661916 and g.36662023-36662062 only), APRT, AP2S1, AQP2, ARHGAP24, ARHGDIA, ARL13B, ARL6, ATP6V0A4, ATP6V1B1, ATP7B, AVP, AVPR2, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BSND, C2, C2CD3, C3, C5 [Chr9(GRCh37):g.123759950-123759973 only], C8A, C8orf37, CA2, CACNA1D, CACNA1H, CASR, CC2D2A, CD151, CD2AP, CD46 (MCP), CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CHD7, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, COQ8B, CPLANE1, CRB2, CREBBP, CSPP1, CTNS, CUBN, CUL3, CYP11B1, CYP11B2, CYP24A1, CYP27B1, CYP2R1, DCDC2, DDX59, DGKE, DHCR7, DMP1, DNAJB11, DYNC2H1, DZIP1L, EGF, EMP2, ENPP1, EYA1, FAH, FAM20A, FAN1, FAT1, FGA, FGF20, FGF23, FGFR1, FGFR2, FN1, FOXI1, FOXP1, FRAS1, FREM1, FREM2, FXYD2, GALNT3, GANAB, GATA3, GLA, GLI3, GLIS2, GNA11, GPC3, GREB1L, GRHPR, GRIP1, GSN, HNF1B, HNF4A, HOGA1, HPRT1, HPSE2, HSD11B2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, INF2, INPP5E, INVS, IQCB1, ITGA3, ITGA8, ITGB4, JAG1, KANK2,  KCNA1, KCNJ1, KCNJ10, KCNJ5, KIAA0556 (KATNIP), KIAA0586, KIAA0753, KIF12, KIF14, KIF7, KL, KLHL3, LAMA5, LAMB2, LMNA, LMX1B, LRIG2, LRP2, LRP5, LYZ, LZTFL1, MAGED2, MAGI2, MAPKBP1, MEFV, MKKS, MKS1, MMACHC, MOCOS, MYH9, MYO1E, NEK1, NEK8, NLRP3, NOTCH2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR3C2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, OCRL, OFD1, PAX2, PBX1, PCBD1, PDE6D, PDSS2, PHEX, PKD1, PKD2, PKHD1, PLCE1, PLCG2, PLG, PMM2, PODXL, PRKCSH, PRPS1, PTPRO, REN, ROBO2, RPGRIP1L, SALL1, SALL4, SARS2, SCARB2, SCLT1, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SGPL1, SIX1, SLC12A1, SLC12A3, SLC17A5, SLC22A12, SLC26A1, SLC2A2, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, ,SLC5A1, SLC5A2, SLC6A19, SLC7A7, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, TBC1D8B, TBX18, TCTN1, TCTN2, TCTN3, THBD, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TRPC6, TRPM6, TSC1, TSC2, TTC21B, TTC8, TTR, UMOD, VDR, VHL, VIPAS39, VPS33B, WDR19, WDR35, WDR72, WDR73, WNK1, WNK4, WNT4, WT1, XDH, XPNPEP3, ZMPSTE24, ZNF423. See Targeted Genes and Methodology Details for Comprehensive Nephrology Gene Panel and Method Description for additional details.

Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for a variety of hereditary kidney diseases.