Description

BioArray Hearing Loss Congenital Deafness Carrier Screen

A genetic blood test to screen for mutations in 223 recessive genes that can cause congenital deafness or hearing loss.

The most common cause of congenital hearing loss is genetic and it is recognised that specific genes play an important role in hearing loss. These mutations can affect the function of the cilia or the auditory nerve. Other causes include infections (CMV, Toxoplasmosis, Rubella, Zika, Syphilis), prematurity , jaundice and alcohol and opioid drugs.

What mutations are tested?

ABHD12,              ABHD5,                 ACOX1,                 ACTG1,                 ADCY1,                 ADGRV1,              AIFM1,                 ALMS1,                 ANLN,                   ARSB,                    ARSG,                    ATP1A3,               ATP2B2,               ATP6V1B1,            BCAP31,               BCS1L,                   BSND,                    BTD,       CABP2,                 CACNA1D,           CCDC50,                 CD151,                 CD164,                 CDC14A,               CDH23,        CEACAM16,        CEP250,                CEP78,                 CHD7,                    CIB2,      CISD2,                   CLDN14,               CLIC5,                    CLPP,                     CLRN1,                 COCH,   COL11A1,            COL11A2,            COL2A1,               COL4A3,               COL4A4,               COL4A5,                 COL4A6,               COL9A1,               COL9A2,               COL9A3,               CRYM,                   DBH,      DCAF17,                 DCDC2,                 DFNA5, DFNB59,               DIABLO,                DIAPH1,                DIAPH3,                DMXL2,                 DNMT1,               DSPP,                    EDN3,                    EDNRA,                 EDNRB,                 EFTUD2,               ELMOD3,                 EPS8,                     EPS8L2,                ESPN,    ESRRB,                 EYA1,                     EYA4,                     FAM65B,              FGF3,                                 FGFR3, FOXC1,                 FOXI1,                   GALNS,                 GATA3,           GDF6,                    GIPC3,   GJA1,         GJB1,                     GJB2,                     GJB3,                     GJB6,                     GLB1,    GNS,                      GPSM2,                 GRHL2,                 GRXCR1,               GRXCR2,        GUSB,              HARS,                    HARS2,                 HGF,                      HGSNAT,              HOMER2,             HSD17B4,            HYAL1,                 IDS,                        IDUA,                    ILDR1,                   JAG1,                     KARS,    KCNE1,             KCNJ10,                KCNQ1,                 KCNQ4,                 KITLG,                   LARS2, LHFPL5,                LHX3,                     LOXHD1,              LOXL3,                 LRP2,                     LRTOMT,                 MAN2B1, MARVELD2,        MCM2,                 MEOX1,                MET,                      MITF,     MPZ,                      MSRB3,                MYH14,                MYH7B,                MYH9,                   MYO15A,             MYO18B,             MYO3A,            MYO6,                 MYO7A,                NAGLU,                NARS2, NDRG1,                NF2,                       NLRP3,                 NOG,                                 OPA1,                    OSBPL2,               OTOA,                   OTOF,                    OTOG,   OTOGL,                 P2RX2,                 PAX3,    PCDH15,               PCGF2,                 PDZD7,                 PEX1,                     PEX10,                 PEX11B,                PEX12,                 PEX13,                 PEX14,                 PEX16,                 PEX19,                 PEX2,                 PEX26,                 PEX3,                     PEX5,                     PEX6,                     PEX7,                     PHYH,    PMP22,                 PNPT1,                 POLR1C,               POLR1D,               POU3F4, POU4F3,               PRPS1,                 RAI1,                     RDX,                      RMND1,               ROR1,                    RPS6KA3,             S1PR2,                 SCP2,                     SERAC1,                 SERPINB6,           SGSH,                    SH3TC2,               SIX1, SIX5,                      SLC12A2,             SLC17A8,                 SLC22A4,             SLC26A4,             SLC26A5,             SLC29A3,             SLC44A4,             SLC4A11,             SLC52A2,                 SLC52A3,             SLITRK6,               SMPX,                   SNAI2,                   SOX10,                 SYNE4,                 TBC1D24,                 TCOF1,                 TECTA,                 TFAP2A,               TIMM8A,             TJP2,                      TMC1,   TMEM126A,                 TMEM132E,        TMIE,                     TMPRSS3,            TPRN,                    TRIOBP,                TRRAP,                 TSPEAR,                 TUBB4B,               TWNK,                 UBR1,                    USH1C, USH1G,                 USH2A,  VCAN,                   WBP2,                   WFS1,                   WHRN,    ZNF469

Non-syndromic hearing loss (a.k.a. connexin 26) – GJB2 gene
Non-syndromic hearing loss (a.k.a. connexin 30) – GJB6 gene
Deafness, autosomal recessive 77 – LOXHD1 gene
Deafness, autosomal recessive, 3 – MYO15A gene
Deafness, autosomal recessive 16 – STRC gene
Deafness, autosomal dominant 36, autosomal recessive 7 – TMC1 gene