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Glomerular diseases and complement genes
Genes: ACE, ACTN4, ADAMTS13, COQ8B, ALG1, ALMS1, ANLN, APOE, APOL1, AQP2, ARHGAP24, ARHGDIA, AVPR2, C1QA, C1QB, C1QC, C1R, C1S, C2, C2CD3, C3, C3AR1, C4A, C4B, C4BPA, C4BPB, C5, C5AR1, C6, C7, C8A, C8B, C8G, C9, CD151, CD2AP, CD46, CD55, CD59, CD93, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CLU, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, CR1, CR2, CRB2, CUBN, DGKE, ELANE, EMP2, ENPP1, F2, FAT1, FCN1, FCN2, FCN3, FGA, FN1, GLA, GLIS3, GREM1, HNF1B, HNF4A, INF2, ITGA3, ITGAM, ITGAX, ITGB2, ITGB4, LAMB2, LMX1B, MBL2, MEFV, MMACHC, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, OCRL, PAX2, PDSS2, PLCE1, PLCG2, PODXL, REN, SCARB2, SERPING1, SGPL1, SLC17A5, SLC5A1, SLC5A2, SMARCAL1, THBD, TNFRSF1A, TRPC6, VEGFA, VSIG4, VTN, WDR73, WT1
Disorders of ion transport, nephrolithiasis, and nephrocalcinosis
Genes: ACE, ADCY10, AGT, AGTR1, AGXT, APRT, AQP2, ATP6V0A4, ATP6V1B1, ATP7B, AVPR2, BSND, CACNA1D, CA2, CACNA1H, CACNA1S, CASR, CDC73, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, CUL3, CYP11B1, CYP11B2, CYP24A1, DMP1, EGF, EHHADH, ENPP1, FAH, FGF23, FXYD2, GATA3, GRHPR, HNF4A, HOGA1, HPRT1, HSD11B2, KCNJ1, KCNJ10, KCNJ2, KCNJ5, KLHL3, LRP5, MAGED2, NEDD4L, NOTCH2, NR3C2, OCRL, PHEX, PLG, REN, SARS2, SCN4A, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC7A9, SLC9A3R1, TRPM6, VDR, WNK1, WNK4, XDH
CAKUT, ciliopathies, tubulointerstitial diseases, and otherGenes: ACE, COQ8A, AGT, AGTR1, AHI1, ALG9, ALMS1, ANKS6, APOA1, ARL13B, ARL6, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMPER, CPLANE1, C8orf37, CC2D2A, CDC73, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CHD1L, CHD7, CLCN5, COLEC10, COLEC11, CREBBP, CSPP1, CTNS, DACH1, DCDC2, DHCR7, DHTKD1, DLC1, DLG1, DNAJB11, DSTYK, DYNC2H1, E2F3, EYA1, FAH, FAN1, FAT1, FGA, FGF20, FGFR1, FOXP1, FRAS1, FREM1, FREM2, GANAB, GATA3, GDNF, GLI3, GLIS2, GLIS3, GPC3, GRIP1, GSN, HNF1B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, INPP5E, INVS, IQCB1, ITGA8, ITGB2, JAG1, KCTD1, KIAA0556, KIAA0586, KIF12, KIF14, KIF7, LMNA, LRP5, LYZ, LZTFL1, MASP1, MASP2, MEFV, MKKS, MKS1, MUC1, NEIL1, NEK1, NEK8, NLRP3, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PBX1, PDE6D, PKD1, PKD2, PKHD1, PMM2, REN, RET, ROBO2, RPGRIP1L, SALL1, SALL4, SARS2, SDCCAG8, SEC61A1, SEMA3E, SIX1, SIX2, SIX5, SLC2A2, SLC41A1, SLIT2, SOX17, SRGAP1, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNXB, TRAP1, TRIM32, TSC1, TSC2, TTC21B, TTC8, TTR, UMOD, UPK3A, UPK3B, VHL, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WNT4, WT1, XPNPEP3, ZMPSTE24, ZNF423
DNA extraction (if applicable) and ultrasonic fragmentation; targeted capture of the coding regions and intron/exon boundaries of protein coding RefSeq genes using the Agilent Clinical Research Exome kit; next generation sequencing (NGS) on an Illumina HiSeq 2500 instrument; alignment to the human reference genome (GRCh37/hg19) using the Burrows-Wheeler Aligner (bwa); variant calling using GATK and detection of exonic deletions and duplications using ExomeDepth; Sanger sequencing to confirm low quality and/or complex indel variants related to the specified phenotype(s); Review of sequence and dosage data for the specified genes by multiple staff members; Variant classification following ACMG criteria (if applicable). Bioinformatic analysis was performed using DDL pipeline DDL.CRExome.v1.2019_07_15 and DDL.CRExome.Dosage.v1.2019_08_20.
Discrimination between multiple heritable etiologies of renal disease; identification of causative variants in complex cases that span multiple phenotypes; facilitation of targeted carrier or presymptomatic testing of relatives of proband and/or predictive prenatal testing.
The detection rate for the RenalZoom panel is undetermined at this point, due to ongoing research in the field.
> 99% for single nucleotide and >92% for small insertion/deletion variants for the nucleotides evaluated. Lower limit of detection: Single nucleotide variants: 25% allele frequency (>96% sensitivity), Small insertion/deletion variants: 50% allele frequency (>94% sensitivity). This test is not validated to identify deletions/insertions of greater than 20bp, copy number changes, nucleotide repeat expansions, mitochondrial DNA variants or mosaicism. Disease-associated variants in regions that are not captured and/or sufficiently sequenced will not be detected by this assay.
3-6ml whole blood in EDTA (purple topped) tubes
Saliva collected in an appropriate collection device (Oragene®-DNA 500 or 600 device)
DNA extracted from fibroblast or lymphocyte cell line (must be extracted in a CLIA-certified laboratory)
Turn Around Time
Fee and CPT Codes
Exome Panel: $2915
CPT Code: 81479
*If you are a provider outside of Johns Hopkins we are only accepting institutional billing