Hearing loss is a common condition in children, affecting 1 in 100 live births. In more than 50% of the cases, there is a genetic cause for this disorder, from which 70% cause non-syndromic hearing loss. Hearing Loss Panel includes genes associated with syndromic and non-syndromic hearing loss. Both autosomal recessive and dominant cases are included in the panel. In addition, Hearing Loss Panel includes syndromes, such as Alport, Pendred, Waardenburg, Usher, and branchio-oto-renal among others.

4-5 weeks

NGS

EDTA Blood, DNA

No. of genes:233 ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ANKH, ATP2B2, ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CDKN1C, CEACAM16, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCAF17, DCDC2, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRP1, ESRRB, EYA1, EYA4, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GAB1, GATA3, GIPC3, GJA1, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HARS1, HARS2, HGF, HOMER2, HOXB1, HSD17B4, ILDR1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LOXHD1, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MCM2, MET, MGP, MITF, MPZL2, MSRB3, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX26, PEX6, PJVK, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, RDX, RMND1, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC19A2, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPATA5, STRC, SUCLA2, SUCLG1, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMU, TSPEAR, TWNK, TYR, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN

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