Genomic Unity® Hearing Loss Disorders Analysis

UO003

Genomic Unity® Hearing Loss Disorders Analysis is a diagnostic test designed to identify genetic variants that cause hearing loss.

Test Description

Genomic Unity® Hearing Loss Disorders Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 282 nuclear genes associated with hearing loss combined with mitochondrial genome analysis.

Genomic Unity® Hearing Loss Analysis provides a single, unified clinical report that replaces a battery of tests including: multiplex ligation dependent probe amplification (MLPA) and single gene or targeted gene panel testing. It additionally eliminates the need to order separate testing for mitochondrial genes.

When to Order

Order this test when clinical symptoms are consistent with hearing loss with a suspected genetic origin.

Included Genes

ABHD12, ABHD5, ACOX1, ACTB, ACTG1, ADCY1, ADGRV1, AIFM1, ALMS1, AMMECR1, ANKH, ANLN, ARSB, ARSG, ATP1A3, ATP2B2, ATP6V0A4, ATP6V1B1, ATP6V1B2, BCAP31, BCS1L, BDP1, BSND, BTD, CABP2, CACNA1D, CATSPER2, CCDC50, CD151, CD164, CDC14A, CDC42, CDH23, CDK9, CDKN1C, CEACAM16, CEP250, CEP78, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, COQ6, CRYM, DBH, DCAF17, DCDC2, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNMT1, DSPP, EDN3, EDNRA, EDNRB, EFTUD2, EIF3F, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FAM136A, FDXR, FGF3, FGFR1, FGFR2, FGFR3, FITM2, FOXC1, FOXI1, GALNS, GATA3, GDF6, GIPC3, GJA1, GJB1, GJB2, GJB3, GJB6, GLB1, GNS, GPSM2, GREB1L, GRHL2, GRXCR1, GRXCR2, GSDME, GUSB, HARS1, HARS2, HGF, HGSNAT, HOMER2, HOXA2, HOXB1, HSD17B4, HYAL1, IDS, IDUA, ILDR1, JAG1, KARS1, KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, KMT2D, LARS2, LHFPL5, LHX3, LMX1A, LOXHD1, LOXL3, LRP2, LRTOMT, MAN2B1, MANBA, MARVELD2, MASP1, MCM2, MEOX1, MET, MGP, MIR96, MITF, MPZ, MPZL2, MSRB3, MYH14, MYH7B, MYH9, MYO15A, MYO18B, MYO3A, MYO6, MYO7A, NAGLU, NARS2, NDP, NDRG1, NEFL, NF2, NLRP3, NOG, NR2F1, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX1, PAX3, PCDH15, PCGF2, PDE1C, PDZD7, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, PISD, PJVK, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RAI1, RDX, REST, RIPOR2, RMND1, ROR1, RPS6KA3, S1PR2, SALL1, SALL4, SCP2, SEMA3E, SERAC1, SERPINB6, SGSH, SH3TC2, SIX1, SIX2, SIX5, SLC12A2, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC29A3, SLC33A1, SLC44A4, SLC4A11, SLC52A2, SLC52A3, SLITRK6, SMAD4, SMPX, SNAI2, SOX10, SOX2, SPATA5, STAG2, STRC, SUCLA2, SUCLG1, SYNE4, SYT2, TBC1D24, TBL1X, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMEM126A, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRMU, TRRAP, TSHZ1, TSPEAR, TUBB4B, TWNK, TYR, UBR1, USH1C, USH1G, USH2A, VCAN, WBP2, WFS1, WHRN, XYLT2, ZNF469

Mitochondrial genes
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY

Included Analyses

  • Sequence analysis of hearing loss-associated genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
  • Copy number variant analysis of hearing loss-associated genes including: duplications/deletions, mobile element insertions, and inversions.
  • Mitochondrial genome analysis including: single nucleotide variants, deletions and insertions with heteroplasmy (≥5%), and large deletions.

Optionally includes:

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Sample Types

CPT Codes

81430, 81431

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Methods and Limitations

Genomic Unity® Hearing Loss Disorders Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.

SNVs:
>99.9% sensitivity
>99.9% specificity
>99.8% positive predictive value

Structural variants:
96% clinical sensitivity

Mitochondrial variants:
Heteroplasmy is not reported for large deletions and duplications are not detected. The false negative rate for mitochondrial large deletions has not been determined.

Test limitations:
The ADCY1, COL4A6, KCNE1, TPRN and USH1C (intron 5 VNTR EXP[9] polymorphism) genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The KCNE1, OTOA, and STRC genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation. However, the STRC gene’s uniquely mappable regions, containing exons 19-29 (chr15:43600672-43605413), are used to determine the overall copy count of the STRC gene and will be interpreted with this test. Short tandem repeats are not reported in the TBX1 gene.