Our Neonatal & Pediatric Critical Care Patients Panel is a specialized genetic testing service designed to provide rapid and comprehensive analysis of genetic conditions in critically ill infants and children. This panel focuses on identifying genetic mutations associated with a range of serious disorders that may present in the neonatal and pediatric populations.

This panel includes targeted gene sequencing for conditions that commonly affect neonates and children in critical care settings, such as metabolic disorders, congenital malformations, neurological conditions, and immunodeficiencies. By utilizing advanced next-generation sequencing (NGS) technology, we can quickly identify pathogenic variants, allowing for timely diagnosis and tailored treatment plans.

Common Genetic Conditions in Neonatal & Pediatric Critical Care:

1. Congenital Malformations:

1. • Genetic testing can identify chromosomal abnormalities, such as trisomies (e.g., Down syndrome) or microdeletions, that result in congenital malformations affecting critical organ systems.

2. Metabolic Disorders:

1. • Many neonates in critical care present with metabolic issues, such as inborn errors of metabolism (e.g., phenylketonuria, urea cycle disorders). Genetic testing enables the identification of enzyme deficiencies early, allowing for timely treatment.

3. Neurological Disorders:

1. • Conditions such as epileptic encephalopathies, neurodegenerative diseases, or developmental delay may have a genetic basis. Early genetic diagnosis helps optimize neurological care and treatment.

4. Immunodeficiencies:

1. • Primary immunodeficiencies, such as SCID (Severe Combined Immunodeficiency), can be diagnosed through genetic testing, allowing for early interventions like bone marrow transplantation.

5. Cardiogenetic Disorders:

1. • In critically ill children with heart defects or arrhythmias, genetic testing can identify syndromes like Long QT syndrome, which can inform both immediate and long-term cardiac management.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:1937 AAAS, AARS2, ABAT, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCC6, ABCC8, ABCC9, ABCD1, ABCD3, ABCD4, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAN, ACAT1, ACE, ACO2, ACOX1, ACP5, ACSF3, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6B, ACTN1, ACTN2, ACTN4, ACVR1, ACVRL1, ACY1, ADA, ADAMTS13, ADAMTS2, ADAMTSL2, ADAR, ADARB1, ADCY6, ADD3, ADGRG1, ADGRV1, ADK, ADNP, ADSL, AEBP1, AFF4, AFG3L2, AGA, AGK, AGL, AGPS, AGRN, AGT, AGTPBP1, AGTR1, AGXT, AHCY, AHDC1, AHI1, AIFM1, AIMP1, AIMP2, AIRE, AKAP9, AKR1D1, AKT2, AKT3, ALAS2, ALB, ALDH18A1, ALDH1A3, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALOX12B, ALOXE3, ALPK3, ALPL, ALS2, ALX3, ALX4, AMELX, AMER1, AMH, AMHR2, AMN, AMPD2, AMT, ANK1, ANK2, ANKH, ANKLE2, ANKRD11, ANKRD26, ANTXR2, AP1S2, AP2S1, AP3B1, AP3B2, AP4B1, AP4M1, AP4S1, APC, APTX, AR, ARFGEF2, ARG1, ARHGAP31, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARPC1B, ARSA, ARX, ASAH1, ASCC1, ASH1L, ASL, ASNS, ASPA, ASPM, ASS1, ASXL1, ASXL3, ATAD1, ATL1, ATM, ATP1A1, ATP1A2, ATP1A3, ATP2A1, ATP5F1A, ATP5F1D, ATP5F1E, ATP6V0A2, ATP6V1B1, ATP7A, ATP8A2, ATP8B1, ATPAF2, ATR, ATRX, AUH, AVPR2, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, B4GAT1, B9D1, B9D2, BAAT, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCL11A, BCL11B, BCOR, BCS1L, BHLHA9, BICD2, BIN1, BLM, BMP1, BMP2, BMP4, BMPER, BMPR1A, BMPR1B, BOLA3, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRIP1, BRPF1, BRWD3, BSCL2, BSND, BTD, BTK, BUB1B, C12orf57, C12orf65, C1QBP, C3, C8orf37, CA2, CA5A, CACNA1A, CACNA1C, CACNA1D, CACNA1E, CACNA1F, CACNA1G, CACNA2D2, CACNB2, CAD, CALM1, CALM2, CALM3, CAMK2B, CANT1, CAPN3, CARD11, CARMIL2, CARS2, CASK, CASQ2, CASR, CAV1, CAV3, CAVIN1, CBL, CBS, CC2D2A, CCBE1, CCDC22, CCDC39, CCDC40, CCDC47, CCDC78, CCDC88C, CCM2, CCND2, CCNQ, CD247, CD320, CD3D, CD3E, CD3G, CD40LG, CD59, CD70, CD96, CDAN1, CDC42, CDH1, CDH2, CDK10, CDK13, CDK5RAP2, CDKL5, CDKN1C, CDON, CDSN, CDT1, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP290, CEP41, CEP55, CFAP298, CFAP300, CFAP410, CFB, CFH, CFL2, CFP, CFTR, CHAMP1, CHAT, CHD1, CHD2, CHD3, CHD4, CHD7, CHKB, CHMP1A, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHUK, CILK1, CIT, CKAP2L, CLCN1, CLCN2, CLCN4, CLCN5, CLCN7, CLDN1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLPB, CLTC, CNGB3, CNOT1, CNPY3, CNTN1, CNTNAP1, CNTNAP2, COA3, COA5, COA6, COA7, COG1, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLEC11, COLGALT1, COLQ, COMP, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, COX8A, CPLANE1, CPLX1, CPS1, CPT1A, CPT2, CRB2, CREBBP, CRLF1, CRPPA, CRTAP, CRYAB, CSF1R, CSNK2A1, CSNK2B, CSPP1, CSRP3, CSTB, CTC1, CTCF, CTNNA2, CTNNB1, CTNS, CTSA, CTSD, CTSK, CUBN, CUL4B, CUL7, CUX2, CWC27, CXCR4, CYB561, CYB5R3, CYBA, CYBB, CYC1, CYFIP2, CYP11A1, CYP17A1, CYP24A1, CYP27A1, CYP27B1, CYP2R1, CYP2U1, CYP4F22, CYP7B1, D2HGDH, DAG1, DARS1, DARS2, DBT, DCC, DCHS1, DCLRE1C, DCX, DDB2, DDC, DDHD2, DDR2, DDRGK1, DDX3X, DDX59, DEAF1, DEPDC5, DES, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHODH, DHX30, DIAPH1, DIS3L2, DKC1, DLAT, DLD, DLL3, DLL4, DLX5, DMD, DMP1, DNA2, DNAAF1, DNAH11, DNAH5, DNAH9, DNAI1, DNAJB6, DNAJC12, DNAJC19, DNAJC21, DNM1, DNM1L, DNM2, DNMT3A, DNMT3B, DOCK3, DOCK6, DOCK8, DOK7, DOLK, DONSON, DPAGT1, DPF2, DPM1, DPM2, DPM3, DPYD, DSP, DSTYK, DUOX2, DUOXA2, DYM, DYNC1H1, DYNC2H1, DYRK1A, DYSF, DZIP1L, EARS2, EBF3, EBP, ECEL1, ECHS1, EDA, EDAR, EDARADD, EDN3, EDNRB, EEF1A2, EFEMP2, EFL1, EFNB1, EFTUD2, EGR2, EHMT1, EIF2AK2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ELN, ELP1, EMD, EMG1, ENG, ENPP1, EOGT, EP300, EPB42, EPCAM, EPG5, EPHB4, EPM2A, EPRS1, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ERF, ERLIN2, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EXOSC9, EXT1, EXT2, EXTL3, EYA1, EYA4, EZH2, F10, F11, F13A1, F2, F8, F9, FAH, FAM111A, FAM126A, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FARS2, FARSB, FAS, FASLG, FASTKD2, FAT4, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXO11, FDXR, FERMT1, FERMT3, FGA, FGB, FGD1, FGD4, FGF23, FGF3, FGF8, FGFR1, FGFR2, FGFR3, FGG, FH, FHL1, FIG4, FITM2, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLCN, FLNA, FLNB, FLT4, FLVCR2, FOXC1, FOXC2, FOXF1, FOXG1, FOXL2, FOXN1, FOXP1, FOXP3, FOXRED1, FRAS1, FREM1, FREM2, FRRS1L, FTL, FTO, FUCA1, FUT8, FXN, FZD2, G6PC3, G6PD, GAA, GABRA1, GABRA5, GABRB2, GABRB3, GABRG2, GALC, GALE, GALK1, GALM, GALNS, GALNT2, GALNT3, GALT, GAMT, GAN, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD2B, GATM, GBA, GBA2, GBE1, GCDH, GCK, GCSH, GDAP1, GDF1, GDF5, GDNF, GFAP, GFER, GFM1, GFM2, GFPT1, GINS1, GJA1, GJA5, GJB1, GJB2, GJB3, GJC2, GK, GLA, GLB1, GLDC, GLDN, GLE1, GLI1, GLI2, GLI3, GLRA1, GLUD1, GLUL, GM2A, GMPPA, GMPPB, GNA11, GNAI3, GNAO1, GNAS, GNB1, GNE, GNPAT, GNPTAB, GNPTG, GNRHR, GNS, GORAB, GOSR2, GP1BB, GP9, GPAA1, GPC3, GPC6, GPD1L, GPI, GPSM2, GPT2, GREB1L, GRHL3, GRHPR, GRIA2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GSR, GSS, GTPBP2, GTPBP3, GUCY1A1, GUCY2C, GUSB, GYS1, GYS2, H1-4, HAAO, HACE1, HADH, HADHA, HADHB, HARS2, HAX1, HBA1, HBA2, HBB, HCCS, HCFC1, HCN1, HCN4, HDAC8, HECW2, HEPACAM, HERC1, HES7, HESX1, HEXA, HEXB, HGD, HGSNAT, HIBCH, HINT1, HIVEP2, HK1, HLCS, HMGA2, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HNRNPK, HNRNPU, HOXA13, HOXA2, HOXD13, HPD, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HRAS, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPB8, HSPG2, HTRA1, HTRA2, HUWE1, HYLS1, IARS2, IBA57, ICOS, IDS, IDUA, IER3IP1, IFIH1, IFITM5, IFNGR1, IFNGR2, IFT122, IFT140, IFT172, IFT27, IFT74, IFT80, IFT81, IGF1, IGF1R, IGF2, IGHMBP2, IGSF1, IHH, IL10RA, IL11RA, IL12B, IL12RB1, IL1RN, IL2RA, IL2RG, IL7R, INPP5E, INPP5K, INPPL1, INS, INSR, INTU, INVS, IQCB1, IQSEC2, IRAK4, IRF6, IRF8, ISCA1, ISCA2, ISCU, ISG15, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA8, ITGB3, ITGB4, ITPA, ITPR1, IVD, JAG1, JAK3, JAM3, JPH2, JUP, KANSL1, KARS1, KAT6A, KAT6B, KATNB1, KBTBD13, KCNA1, KCNA2, KCNB1, KCNE1, KCNE2, KCNH1, KCNH2, KCNJ1, KCNJ10, KCNJ11, KCNJ2, KCNJ5, KCNK9, KCNMA1, KCNQ1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCNT2, KCTD1, KCTD7, KDM1A, KDM5C, KDM6A, KDSR, KIAA0586, KIAA1109, KIDINS220, KIF11, KIF14, KIF1A, KIF21A, KIF2A, KIF5A, KIF7, KIFBP, KIT, KLF1, KLHL40, KLHL41, KMT2A, KMT2C, KMT2D, KNL1, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KYNU, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMA3, LAMB1, LAMB2, LAMB3, LAMC2, LAMP2, LARGE1, LARP7, LARS2, LAT, LBR, LDLR, LGI1, LGI4, LHX3, LHX4, LIAS, LIFR, LIG4, LIPA, LIPT1, LIPT2, LITAF, LMBR1, LMBRD1, LMNA, LMOD3, LMX1B, LNPK, LONP1, LPIN1, LPL, LRBA, LRP2, LRP4, LRP5, LRPPRC, LRRC56, LRRC6, LRSAM1, LTBP2, LTBP4, LYRM4, LYRM7, LYST, LZTFL1, LZTR1, MAB21L1, MAF, MAFB, MAGED2, MAGEL2, MAGI2, MAN1B1, MAN2B1, MAP1B, MAP2K1, MAP2K2, MAP3K1, MAP3K7, MARS2, MASP1, MAST1, MAT1A, MATN3, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCEE, MCFD2, MCOLN1, MCPH1, MECP2, MED12, MED13, MED13L, MED17, MEF2C, MEFV, MEGF10, MEIS2, MEN1, MEOX1, MESP2, MFN2, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MICOS13, MICU1, MID1, MIPEP, MITF, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMP2, MMUT, MNX1, MOCS1, MOCS2, MOGS, MORC2, MPC1, MPDU1, MPI, MPL, MPLKIP, MPV17, MPZ, MRPL12, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSX1, MSX2, MTFMT, MTHFS, MTM1, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, MTTP, MUSK, MVK, MYBPC1, MYBPC3, MYCN, MYD88, MYF5, MYH11, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYO5A, MYO5B, MYO9A, MYORG, MYPN, MYRF, NAA10, NACC1, NADSYN1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAXD, NBAS, NBN, NCAPD3, NCF2, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NECTIN1, NEDD4L, NEFL, NEK1, NEK8, NEK9, NEPRO, NEU1, NEUROG3, NEXMIF, NEXN, NF1, NF2, NFASC, NFE2L2, NFIA, NFIX, NFKB1, NFKB2, NFU1, NGLY1, NHEJ1, NHLRC1, NHS, NIPAL4, NIPBL, NKX2-1, NKX2-5, NKX6-2, NLRC4, NLRP3, NODAL, NOG, NONO, NOTCH1, NOTCH2, NOTCH3, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR2F2, NR3C2, NR5A1, NRAS, NRIP1, NSD1, NSDHL, NSUN3, NT5C2, NTRK1, NTRK2, NUBPL, NUP62, NUP88, NUS1, OAT, OBSL1, OCA2, OCLN, OCRL, ODC1, OFD1, OPA1, OPA3, OPHN1, ORAI1, ORC1, ORC4, ORC6, OSGEP, OSMR, OSTM1, OTC, OTUD6B, OTX2, OXCT1, P3H1, P4HB, PAFAH1B1, PAH, PAK1, PAK3, PALB2, PANK2, PAPSS2, PARN, PARS2, PAX2, PAX3, PAX6, PAX8, PBX1, PC, PCBD1, PCCA, PCCB, PCDH12, PCDH19, PCGF2, PCK1, PCNT, PCSK1, PCYT1A, PDE4D, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAP1, PGAP3, PGK1, PGM1, PGM3, PHEX, PHF21A, PHF6, PHF8, PHGDH, PHIP, PHKA2, PHKB, PHKG2, PHOX2B, PIBF1, PIEZO1, PIEZO2, PIGA, PIGC, PIGH, PIGK, PIGL, PIGN, PIGO, PIGP, PIGQ, PIGS, PIGT, PIGV, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PINK1, PISD, PITX1, PITX2, PKD1, PKD2, PKDCC, PKHD1, PKLR, PKP1, PKP2, PLA2G6, PLAA, PLCB4, PLCE1, PLD1, PLEC, PLEKHG5, PLG, PLK4, PLOD1, PLOD2, PLP1, PLPBP, PLVAP, PMM2, PMP22, PMPCA, PMPCB, PNKD, PNKP, PNP, PNPLA1, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POGZ, POLE, POLG, POLG2, POLH, POLR1C, POLR1D, POLR3A, POLR3B, POMC, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PORCN, POU1F1, PPA2, PPCS, PPM1D, PPM1K, PPP1CB, PPP1R12A, PPP2CA, PPP3CA, PPT1, PQBP1, PRDM12, PREPL, PRF1, PRG4, PRKAG2, PRKAR1A, PRMT7, PROC, PROKR2, PROP1, PROS1, PRPS1, PRRT2, PRRX1, PRUNE1, PRX, PSAP, PSAT1, PTCH1, PTDSS1, PTEN, PTF1A, PTH1R, PTPN11, PTPN23, PTPRC, PTS, PUF60, PUM1, PURA, PUS1, PUS7, PYCR1, PYCR2, PYGL, QDPR, QRSL1, RAB18, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAC1, RAC3, RAD21, RAF1, RAG1, RAG2, RAI1, RALGAPA1, RAPSN, RARS1, RARS2, RASA1, RASGRP1, RB1, RBM10, RBM8A, RBPJ, RECQL4, RELN, REN, RERE, RET, RFT1, RFWD3, RFXANK, RINT1, RIPK1, RIPK4, RIT1, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNPC3, RNU4ATAC, ROR2, RORA, RPGRIP1L, RPL10, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS6KA3, RPS7, RRM2B, RS1, RSPH4A, RSPH9, RTEL1, RTTN, RUNX1, RUNX2, RUSC2, RXYLT1, RYR1, RYR2, SACS, SALL1, SALL4, SAMD9, SAMD9L, SAMHD1, SARS2, SATB2, SBDS, SBF2, SC5D, SCARF2, SCN11A, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SDHB, SDHD, SEC23B, SEC24D, SELENON, SEPSECS, SEPTIN9, SERAC1, SERPINF1, SERPING1, SERPINH1, SETBP1, SETD1B, SETD2, SETD5, SETX, SF3B4, SFTPB, SFTPC, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGPL1, SGSH, SH2D1A, SH3BP2, SH3PXD2B, SH3TC2, SHANK3, SHH, SHOC2, SIGMAR1, SIL1, SIN3A, SIX1, SIX3, SKI, SLC10A7, SLC12A1, SLC12A3, SLC12A6, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A3, SLC25A38, SLC25A4, SLC25A46, SLC26A2, SLC26A3, SLC27A4, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A4, SLC3A1, SLC46A1, SLC4A1, SLC4A11, SLC52A2, SLC5A1, SLC5A2, SLC5A5, SLC5A7, SLC6A1, SLC6A3, SLC6A5, SLC6A8, SLC7A7, SLC7A9, SLC9A6, SLCO2A1, SLX4, SMAD3, SMAD4, SMAD9, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCD2, SMARCE1, SMC1A, SMC3, SMCHD1, SMOC1, SMPD1, SMS, SNAP29, SNRPN, SNTA1, SNX14, SON, SOS1, SOS2, SOX10, SOX11, SOX18, SOX2, SOX9, SP110, SPART, SPAST, SPATA5, SPECC1L, SPEG, SPINK5, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SPTBN4, SPTLC1, SRCAP, SRD5A2, SRD5A3, SRY, SSR4, ST3GAL3, ST3GAL5, STAC3, STAG2, STAMBP, STAR, STAT1, STAT3, STIL, STK11, STRA6, STS, STX11, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SUMF1, SUOX, SURF1, SYNE1, SYNGAP1, SYNJ1, SYT1, SZT2, TACO1, TAF1, TALDO1, TANGO2, TAPT1, TARS2, TAT, TAZ, TBC1D20, TBC1D23, TBC1D24, TBCD, TBCE, TBCK, TBX1, TBX15, TBX2, TBX22, TBX3, TBX4, TBX5, TCAP, TCF12, TCF20, TCF4, TCIRG1, TCN2, TCOF1, TCTN1, TCTN2, TCTN3, TELO2, TENT5A, TFAP2A, TFAP2B, TFG, TG, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGIF1, TGM1, TGM5, TH, THBD, THRA, THRB, TIMM50, TIMM8A, TINF2, TJP2, TK2, TLK2, TMCO1, TMEM107, TMEM126B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM260, TMEM43, TMEM67, TMEM70, TMTC3, TNFRSF11A, TNFRSF11B, TNFRSF1A, TNFSF11, TNNC1, TNNI2, TNNT1, TNNT2, TNNT3, TNXB, TOE1, TONSL, TOP3A, TOR1A, TP53RK, TP63, TPI1, TPK1, TPM1, TPM2, TPM3, TPO, TPP1, TPRKB, TRAF7, TRAK1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC4, TRAPPC6B, TRAPPC9, TREX1, TRIM32, TRIM37, TRIO, TRIP11, TRIP12, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TRPM4, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TSEN54, TSFM, TSHB, TSHR, TSPEAR, TSPYL1, TTC19, TTC21B, TTC37, TTC7A, TTC8, TTN, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBGCP4, TUBGCP6, TUFM, TWIST1, TWNK, TYK2, TYMP, UBA1, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UFC1, UFM1, UGP2, UGT1A1, UMOD, UNC13D, UNC80, UPB1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, UROD, UROS, USB1, USP9X, VARS2, VCAN, VCP, VDR, VHL, VIPAS39, VLDLR, VPS13A, VPS13B, VPS33B, VRK1, VWF, WAC, WARS2, WAS, WDPCP, WDR1, WDR19, WDR26, WDR35, WDR4, WDR45, WDR62, WDR73, WDR81, WFS1, WNK1, WNT1, WNT10A, WNT10B, WNT5A, WNT7A, WRN, WT1, WWOX, XIAP, XPA, XPC, XYLT1, XYLT2, YARS2, YWHAG, YY1, ZAP70, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZEB2, ZFYVE26, ZIC1, ZIC2, ZIC3, ZMPSTE24, ZMYND10, ZNF335, ZNF341, ZNF423, ZNF462, ZNF469

Approximately 10 % of the population worldwide is affected by chronic kidney diseases. Advances in genetic techniques are providing insights into kidney disease diagnosis, pathogenesis, and therapy. Comprehensive Renal Panel offers a comprehensive tool to screen for the most prevalent hereditary kidney disorders, including: Alport syndrome, renal tubular acidosis panel, focal glomerulonephritis panel, and primary hyperoxaluria, among others. Comprehensive Renal Panel also covers the group of disorders causing cilia dysfunction, including Joubert Syndrome, Bardet-Biedl, COACH syndrome, primary ciliary dyskinesia, Meckel syndrome, skeletal dysplasia, situs inversus, and heterotaxy, among others.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:504 ABCB11, ABCB4, ABCC2, ACE, ACP5, ACTG2, ACTN4, ACVR2B, AGPS, AGT, AGTR1, AGXT, AHI1, AIPL1, AKR1D1, ALDOB, ALG8, ALG9, ALPL, AMER1, ANKH, ANKS6, ANLN, ANO5, ANOS1, AP2S1, ARHGAP31, ARHGDIA, ARL13B, ARL3, ARL6, ARMC5, ARMC9, ARSL, ATP6V0A4, ATP6V1B1, ATP8B1, ATR, AVPR2, B9D1, B9D2, BAAT, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCS1L, BICC1, BMP1, BMP4, BMPR1B, BNC2, BSND, C2CD3, CA2, CABP4, CANT1, CASP10, CASR, CC2D2A, CCDC103, CCDC28B, CCDC39, CCDC40, CCDC65, CCN6, CCNO, CD2AP, CDKN1C, CENPF, CENPJ, CEP120, CEP152, CEP164, CEP290, CEP41, CEP55, CEP83, CFAP298, CFAP418, CFAP53, CFTR, CHD1L, CHD7, CHRNA3, CHST3, CHSY1, CILK1, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, COL10A1, COL4A1, COL4A3, COL4A4, COL4A5, COL9A3, COMP, COQ2, COQ6, COQ8B, COQ9, CPLANE1, CRB1, CRB2, CRELD1, CRTAP, CRX, CSPP1, CTNS, CTU2, CUBN, CUL3, CWC27, CYP7B1, DCDC2, DDR2, DDX59, DGKE, DGUOK, DHCR7, DICER1, DLL3, DMP1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB11, DNAL1, DRC1, DSTYK, DUSP6, DYM, DYNC2H1, DYNC2I1, DYNC2I2, DYNC2LI1, DZIP1L, EBP, EIF2AK3, EMP2, ENPP1, ESCO2, EVC, EVC2, EXT1, EXT2, EYA1, FAH, FAM20C, FAN1, FAS, FASLG, FAT4, FEZF1, FGF17, FGF23, FGF8, FGFR1, FGFR2, FKBP10, FLNB, FLRT3, FN1, FOXP1, FRAS1, FREM1, FREM2, FSHB, FXYD2, GANAB, GATA3, GDF1, GDF5, GFM1, GHR, GLA, GLI2, GLI3, GLIS2, GLIS3, GNA11, GNAS, GNPAT, GNRH1, GNRHR, GPC3, GPC6, GREB1L, GRIP1, GUCY2D, HAAO, HAMP, HESX1, HEXA, HFE, HNF1B, HNF4A, HOXA13, HOXD13, HPSE2, HS6ST1, HSD11B2, HSD3B7, HSPG2, HYDIN, HYLS1, IFITM5, IFT122, IFT140, IFT172, IFT27, IFT43, IFT80, IFT81, IHH, IL17RD, IMPDH1, INF2, INPP5E, INPPL1, INVS, IQCB1, ITGA3, ITGA8, JAG1, KANK2, KCNJ1, KCNJ10, KCNJ13, KCNJ5, KDM6A, KIAA0586, KIF14, KIF22, KIF7, KISS1, KISS1R, KLHL3, KMT2D, KYNU, LAGE3, LAMB2, LBR, LCA5, LCAT, LCT, LEP, LEPR, LHB, LHX3, LHX4, LIFR, LMF1, LMX1B, LRAT, LRIG2, LRP4, LRP5, LZTFL1, MAFB, MAGI2, MAPKBP1, MATN3, MCEE, MERTK, MESP2, MGP, MKKS, MKS1, MMAA, MMAB, MMADHC, MMP13, MMP21, MMP9, MMUT, MPV17, MUC1, MYH9, MYO1E, MYO5B, MYO7A, MYOCD, NADSYN1, NBAS, NEK1, NEK8, NEUROG3, NIPBL, NKX2-5, NKX3-2, NME8, NMNAT1, NODAL, NOG, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPR2, NR0B1, NR0B2, NR1H4, NR3C2, NSDHL, NSMF, NUP107, NUP93, OBSL1, OCRL, ODAD1, ODAD2, ODAD3, OFD1, OSGEP, OTX2, P3H1, PAPSS2, PAX2, PBX1, PCSK1, PDE4D, PDE6D, PDSS2, PEX1, PEX10, PEX12, PEX2, PEX26, PEX5, PEX6, PEX7, PHEX, PHF6, PIBF1, PKD1, PKD1L1, PKD2, PKHD1, PLCE1, PLOD2, PMM2, PNPLA6, POLG, POLR3B, POMC, POU1F1, PPARG, PPIB, PRKAR1A, PRKCSH, PROK2, PROKR2, PROM1, PROP1, PRPH2, PTH1R, PTHLH, PTPRO, RBBP8, RD3, RDH12, RDH5, REN, RET, RHO, RLBP1, RMND1, RNF216, ROBO1, ROBO2, ROR2, RPE65, RPGRIP1, RPGRIP1L, RRM2B, RSPH1, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SBDS, SCARB2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC61A1, SEC63, SEMA3A, SERPINA1, SERPINF1, SERPINH1, SGPL1, SH3PXD2B, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC25A13, SLC25A15, SLC26A2, SLC26A3, SLC2A2, SLC34A1, SLC34A3, SLC35D1, SLC4A1, SLC4A4, SLCO1B1, SLCO1B3, SLIT2, SMARCAL1, SMPD1, SOX10, SOX11, SOX17, SOX2, SOX3, SOX9, SPAG1, SPATA7, SPINT2, SPRY4, STRA6, SUFU, TAC3, TACR3, TBC1D1, TBX15, TBX18, TBX3, TBX5, TCTN1, TCTN2, TCTN3, TFR2, TJP2, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNFRSF11B, TP53RK, TPRKB, TRAF3IP1, TRAP1, TRIM32, TRIP11, TRMU, TRPC6, TRPS1, TRPV4, TSC1, TSC2, TTC21B, TTC37, TTC8, TULP1, TXNDC15, UGT1A1, UMOD, UPK3A, VHL, VIPAS39, VPS33B, WDR11, WDR19, WDR35, WDR4, WDR73, WNK1, WNK4, WNT4, WNT5A, WNT7A, WT1, XPNPEP3, XYLT1, ZIC3, ZMYND10, ZNF423