Hearing Loss Advanced Sequencing and CNV Evaluation

Test Code
3029

Test Details


Test code: 3029
New York State Status: This test is not available for New York patient testing.
Type of disorder: Hearing Loss
Disease(s) tested for: Sensorineural Hearing Loss
Genes Included: ABHD12, ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ANKH, ATP2B2 (PMCA2), ATP6V1B1, ATP6V1B2, BCS1L, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD151, CD164, CDC14A, CDH23, CEACAM16, CEMIP, CHD7, CHSY1, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DCDC2, DFNA5, DFNB1 Locus, DFNB59 (PJVK), DIABLO, DIAPH1, DIAPH3, DLX5, DNMT1, DSPP, EDN3, EDNRA, EDNRB, ELMOD3, EPS8, EPS8L2, ERCC2, ERCC3, ESPN, ESRRB, EYA1, EYA4, FGF3, FGFR1, FGFR2, FGFR3, FOXI1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS2, HGF, HOMER2, HOXB1, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, LARS2, LHFPL5, LOXHD1, LRTOMT, MANBA, MARVELD2, MCM2, MET, MIR96 (miRNA), MITF, MSRB3, MT-CO1, MT-CO2, MT-ND1, MT-RNR1 (rRNA), MT-TH (tRNA), MT-TI (tRNA), MT-TI/MT-TQ (tRNA), MT-TK (tRNA), MT-TL1 (tRNA), MT-TQ (tRNA), MT-TS1 (tRNA), MT-TS2 (tRNA), MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NDP, NLRP3, NR2F1, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDZD7, PEX1, PEX6, PMP22, PNPT1, POLR1C, POLR1D, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, RIPOR2 (FAM65B), ROR1, S1PR2, SALL1, SEMA3E, SERPINB6, SIX1, SIX5, SLC12A1, SLC17A8, SLC19A2, SLC22A4, SLC26A4, SLC26A5, SLC4A11, SLITRK6, SMPX, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, USH1C, USH1G, USH2A, WFS1, WHRN
Informed Consent Required: This test requires physician attestation that patient consent has been received
The Hearing Loss Advanced Sequencing and CNV Evaluation harnesses the power of sequencing and CNV analysis to provide a clear picture by testing for 183 genes and the DFNB1 locusa:
a CNV analysis only b Sequencing only
ABHD12
CEACAM16 CRYM EYA4 KARS MT-TIb OTOGL SERPINB6 TIMM8A
ACTB CEMIP DCDC2 FGF3 KCNE1 MT-TKb P2RX2 SIX1 TJP2
ACTG1 CHD7 DFNA5 FGFR1 KCNJ10 MT-TL1b PAX3 SIX5 TMC1
ADCY1 CHSY1 DFNB59 (PJVK) FGFR2 KCNQ1 MT-TQb PCDH15 SLC12A1 TMEM132E
ADGRV1 (GPR98) CIB2 DIABLO FGFR3 KCNQ4 MT-TS1b PDZD7 SLC17A8 TMIE
AIFM1 CISD2 DIAPH1 FOXI1 LARS2 MT-TS2b PEX1 SLC19A2 TMPRSS3
ALMS1 CLDN14 DIAPH3 GATA3 LHFPL5 MYH14 PEX6 SLC22A4 TNC
ANKH CLIC5 DLX5 GIPC3 LOXHD1 MYH9 PMP22 SLC26A4 TPRN
ATP2B2 (PMCA2) CLPP DNMT1 GJB2 LRTOMT MYO15A PNPT1 SLC26A5 TRIOBP
ATP6V1B1 CLRN1 DSPP GJB3 MANBA MYO3A POLR1C SLC4A11 TSPEAR
ATP6V1B2 COCH EDN3 GJB6 a MARVELD2 MYO6 POLR1D SLITRK6 USH1C
BCS1L COL11A1 EDNRA GPSM2 MCM2 MYO7A POU3F4 SMPX USH1G
BDP1 COL11A2 EDNRB GRHL2 MET NARS2 POU4F3 SNAI2 USH2A
BSND COL2A1 ELMOD3 GRXCR1 MIR96 NDP PRPS1 SOX10 WFS1
CABP2 COL4A3 EPS8 GRXCR2 MITF NLRP3 PTPRQ STRC WHRN
CACNA1D COL4A4 EPS8L2 HARS2 MSRB3 NR2F1 RDX SYNE4  
CCDC50 COL4A5 ERCC2 HGF MT-CO1b OPA1 RIPOR2 (FAM65B) TBC1D24  
CD151 COL4A6 ERCC3 HOMER2 MT-CO2b OSBPL2 ROR1 TBX1  
CD164 COL9A1 ESPN HOXB1 MT-ND1b OTOA S1PR2 TCOF1  
CDC14A COL9A2 ESRRB HSD17B4 MT-RNR1b OTOF SALL1b TECTA  
CDH23 COL9A3 EYA1 ILDR1 MT-THb OTOG SEMA3E TFAP2A  

Technical Information


Clinical Significance: This diagnostic panel detects DNA sequence variants and copy number variations (CNV) in genes that are associated with hearing loss.
Methodology: Next Generation Sequencing, Copy Number Variation Analyses using Next Generation Sequencing or qPCR (STRC gene only), Targeted Microarray
Reference Range: See Laboratory Report

CPT Coding


The CPT codes provided are based on AMA guidelines and 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.

CPT: 81430, 81431

Specimen Requirements


Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Specimen Type: Whole blood
Specimen Stability: Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable
Specimen Requirements: 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum)
Instructions:

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years may have higher WBC, yielding more DNA per mL of blood.

Shipping Considerations


Transport Temperature: Room temperature
Set-up/Analytic Time: 28-35 days

Additional Resources

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