بیماریهای گوش حلق و بینی

( Ear, Nose, Throat Diseases )

کد آزمایش

 عنوان تشخیص بیماری نام ژن(ها) نمونه مورد نیاز روش آنالیز مدت آنالیز
DX0464 Genetic Testing for Hearing Impairment
.		 Genetic Testing for Hearing
Impairment		 ۱۲۷ genes: ACTG1, ALMS1, ATP2B2, BSND,
CACNA1D, CCDC50, CDH23, CEACAM16,
CHD7, CLDN14, CLRN1, COCH, COL11A1,
COL2A1, COL4A3, COL4A4, COL4A5,
COL9A1, COL9A2, CRYM, DFNA5, DFNB31,
DFNB59/PJVK, DIABLO, DIAPH1, DIAPH3,
DLX5, DSPP, EDN3, EDNRB, ESPN, ESRRB,
EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3,
FOXI1, GATA3, GIPC3, GJA1, GJB2, GJB3,
GJB6, GLI3, GPR98, GPSM2, GRHL2,
GRXCR1, HGF, HOXA1, HOXA2, IGF1, ILDR1,
KCNE1, KCNJ10, KCNQ1, KCNQ4, LHFPL5,
LOXHD1, LRP2, LRTOMT, MARVELD2,
MIR96, MITF, MSRB3, MT‐RNR1, MT‐TE, MT‐
TK, MT‐TL1, MT‐TS1, … Please continue into
below cell		 خون وریدی حاوی EDTA NGS ۲ماه
DX0465 Genetic Testing for Non‐syndromic
Hearing Impairment		 Genetic Testing for Non‐syndromic
Hearing Impairment		 ۸۱ genes: GJB2,+E160:E161 GJB3, MT‐
RNR1, SLC26A4, ACTG1, ATP2B2, BSND,
CACNA1D, CCDC50, CDH23, CEACAM16,
CLDN14, CLRN1, COCH, CRYM, DFNA5,
DFNB31, DFNB59/PJVK, DIABLO, DIAPH1,
DIAPH3, DSPP, ESPN, ESRRB, EYA4, FOXI1,
GIPC3, GJA1, GJB6, GPR98, GPSM2, GRHL2,
GRXCR1, HGF, ILDR1, KCNE1, KCNJ10,
KCNQ1, KCNQ4, LHFPL5, LOXHD1, LRTOMT,
MARVELD2, MIR96, MSRB3, MT‐TS1,
MYH14, MYH9, MYO15A, MYO1A, MYO3A,
MYO6, MYO7A, OTOA, OTOF, OTOG,
PCDH15, PDZD7, POU3F4, POU4F3, PRPS1,
PTPRQ, RDX, SERPINB6, SIX1, SLC17A8,
SLC26A5, SMPX, STRC, TECTA, TIMM8A,
TJP2, TMC1, TMIE, TMPRSS3, TPRN,
TRIOBP, USH1C, USH1G, USH2A, WFS1		 خون وریدی حاوی EDTA NGS ۲ماه
DX0466 Genetic Testing for Syndromic
Hearing Impairment		 Genetic Testing for Syndromic
Hearing Impairment		 ۶۶ genes: ALMS1, BSND, CACNA1D, CDH23,
CHD7, CLRN1, COL11A1, COL2A1, COL4A3,
COL4A4, COL4A5, COL9A1, COL9A2,
DFNB31, DLX5, EDN3, EDNRB, EYA1, FGF3,
FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GLI3,
GPR98, HOXA1, HOXA2, IGF1, KCNE1,
KCNJ10, KCNQ1, LRP2, MITF, MT‐TE, MT‐TK,
MT‐TL1, MYO7A, NDP, OPA1, PAX2, PAX3,
PCDH15, PDSS1, PDZD7, PHEX, PRRX1,
SEMA3E, SERAC1, SIX1, SIX5, SLC19A2,
SLC26A4, SLC4A11, SMAD4, SNAI2, SOBP,
SOX10, SOX9, TCOF1, TIMM8A, TNFRSF11B,
USH1C, USH1G, USH2A, WFS1		 خون وریدی حاوی EDTA NGS ۲ماه
DX0813 Stickler Syndrome Stickler Syndrome CCOL11A1, COL11A2 خون وریدی حاوی EDTA NGS ۲ماه
DX0931 Wolfram Syndrome Wolfram Syndrome WFS1, CISD2 خون وریدی حاوی EDTA NGS

۲ماه