Otorrinolaringología

Producto	Tipo de test	Genes
Alström, Síndrome de	Gen NGS	ALMS1
Epstein, Síndrome	Gen NGS	MYH9
Hipoacusias 60 genes	Panel NGS	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
Hipoacusias Autosómicas Dominantes	Exoma Dirigido	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
Hipoacusias Autosómicas Recesivas	Exoma Dirigido	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
Hipoacusias Autosómicas Recesivas	Detección de deleciones/duplicaciones	PCDH15
Hipoacusias familiares (dominantes y...	Exoma Dirigido	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
Sordera Sensorineural no Sindrómica...	Gen NGS	COCH