Otorhinolaryngology

Product	Type of test	Genes
Alström syndrome	Gene NGS	ALMS1
Autosomal dominant nonsyndromic...	Gene NGS	COCH
Epstein syndrome	Gene NGS	MYH9
Hearing loss (dominant and recessives)	Targeted Exome	ACTG1, BSND, CCDC50, CDH23, CEACAM16, CLDN14, CLRN1, COCH, COL11A2, CRYM, DFNA5, DFNB59, DIAPH1, ESRRB, EYA4, GATA3, GIPC3, GJB2, GJB3, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, HGF, ILDR1, KCNE1, KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MIR96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, OTOF, PCDH15, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SLC17A8, SLC26A4, SLC26A5, SMPX, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, USH2A, WFS1, WHRN
Hearing loss 60 genes	NGS Panel	USH2A, CCDC50, DFNB59, POU4F3, DIAPH1, TPRN, EYA4, SMAC, ILDR1, TECTA, WHRN, RDX, GPSM2, SLC26A4, PRPS1, SLC26A5, GRHL2, SLC17A8, POU3F4, HGF, PTPRQ, ACTG1, ESRRB, MYO7A, MYO6, TMC1, CDH23, LRTOMT, TJP2, MARVELD2, MSRB3, MYO1A, PCDH15, MYH14, TMIE, CEACAM16, LOXHD1, STRC, TMPRSS3, GRXCR1, KCNQ4, TRIOBP, CLDN14, MYH9, LHFPL5, GJB3, COL11A2, COCH, OTOF, MYO3A, DFNA5, SMPX, OTOA, CRYM, GJB6, GJB2, MYO15A, USH1C, ESPN, WFS1, GIPC3, SERPINB6
Hearing loss autosomal dominant	Targeted Exome	ACTG1, CCDC50, CEACAM16, COCH, COL11A2, CRYM, DFNA5, DIAPH1, EYA4, GJB2, GJB3, GJB6, GRHL2, KCNQ4, MIR96, MYH14, MYH9, MYO1A, MYO6, MYO7A, POU4F3, SLC17A8, TECTA, TJP2, TMC1, WFS1
Hearing loss autosomal recessive	Targeted Exome	BSND, CDH23, CLDN14, COL11A2, DFNB59, ESRRB, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRXCR1, HGF, ILDR1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, MYO6, MYO7A, OTOF, PCDH15, PTPRQ, RDX, SERPINB6, SLC26A4, SLC26A4,SLC26A5, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, USH1C, WHRN
Hearing loss autosomal recessive	Detección de deleciones/duplicaciones	PCDH15