Hearing Loss Advanced Sequencing and CNV Evaluation

• Test Details
• Technical Information
• CPT Coding
• Specimen Requirements
• Shipping Considerations

Test Details

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Test code:	3029
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 locus^a:

^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

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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

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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

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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

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