Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
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Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder
Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members
Hereditary hearing loss is a genetically heterogeneous condition that can be either syndromic or nonsyndromic in origin.
This panel evaluates 160 genes related to both syndromic and nonsyndromic hereditary hearing loss.
The following genes are investigated in this panel test: ABHD12, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, ATP6V1B1, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CEP78, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, CRYM, DCDC2, DFNA5 (GSDME), DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR2, FLNA, FOXC1, FOXI1, GATA3, GIPC3, GJB2, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, JAG1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, KITLG, LARS2, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MSRB3, MT-RNR1, MT-TS1, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NF2, NLRP3, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PHYH, PJVK, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPN11, PTPRQ, RDX, RIPOR2, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC52A2, SLC52A3, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TECTA, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TWNK, USH1C, USH1G, USH2A, WBP2, WFS1, and WHRN
Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS)/Polymerase Chain Reaction (PCR)/digital droplet PCR (ddPCR), qPCR/Sanger Sequencing/Gene Dosage Analysis by Multiplex Ligation- Dependent Probe Amplification (MLPA)