Broj gena
233
TAT (radni dani)
25
Metoda
NGS uključujući CNV analizu, mtDNK
Uzorak
Puna krv
Opis
Gubitak sluha je češće stanje kod djece, koje pogađa 1 od 100 novorođenčadi. U više od 50 % slučajeva, uzrok poremećaja je genetički, pri čemu 70 % ovih slučajeva uzrokuje nesindromski gubitak sluha.
CentoHear uključuje gene povezane sa sindromskim i nesindromskim gubitkom sluha. U panelu su obuhvaćeni i autosomno recesivni i dominantni oblici.
Pored toga, CentoHear uključuje i gene povezane sa sindromima poput: Alport, Pendred, Waardenburg, Usher i branchio-oto-renal, između ostalih.
Geni
ABHD12, ACTB, ACTG1, ADCY1, ADGRV1, AFG2A, 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, 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