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Comprehensive Hearing Loss NGS Panel + mtDNA
CPT:
81430; 81431; 81460; 81465
Test Includes
This test includes: ABHD12, ACTG1, ACVR1, ADAM17, AFF4, AIFM1, ALMS1, ALX3, AMER1, ANKH, ARHGDIA, ATP2B2, ATP6V1B1, ATP6V1B2, B3GAT3, BSND, BTK, CACNA1D, CCBE1, CCDC50, CCND1, CD164, CDH23, CEACAM16, CEP78, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COLEC11, CRYM, DCDC2, DCHS1, DDX3X, DFNA5, DFNB31, DFNB59, DHODH, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAAF3, DSPP, DUSP6, DVL1, DVL3, EDN1, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPG5, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FANCI, FAT4, FDXR, FGF10, FGF3, FGFR1, FGFR2, FGFR3, FIBP, FLNB, FLRT3, FOXI1, FRAS1, FREM2, GAS8, GATA3, GDF6, GIPC3, GJB2, GJB3, GJB6, GLYCTK, GMNN, GPR98, GPSM2, GRHL2, GRIP1, GRXCR1, GRXCR2, GSC, GTF2E2, GUCY2D, GZF1, HAAO, HACE1, HARS2, HOMER2, HOXA11, HOXA2, HSD17B4, IL17RD, IMPAD1, IRX5, KARS, KAT6B, KCNE1, KCNH1, KCNJ10, KCNQ1, KCNQ4, KITLG, KMT2A, LARS, LARS2, LEP, LHFPL5, LMX1B, LONP1, LOXHD1, LRP4, LRP5, LRTOMT, MAF, MAFB, MAPRE2, MASP1, MCM2, MECOM, MEGF8, MEOX1, MET, MGP, MIR96, MITF, MORC2, MYCN, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NLRP3, NOG, NOTCH2, OPA1, OSBPL2, OTOF, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PCNA, PDZD7, PET100, PEX1, PEX6, PIK3CD, PIK3R1, PNPT1, POGZ, POLD1, POLR1A, POLR1C, POLR1D, POR, POU3F4, POU4F3, PRDM5, PRKAR1A, PRKDC, PROKR2, PRPS1, PRRX1, PTPRQ, PYCR2, RAB23, RAC1, RBMX, RCBTB1, RDH11, RNASET2, RPL11, RPS23, RPS26, RPS28, SALL1, SALL4, SC5D, SERPINB6, SGPL1, SIX1, SLC17A8, SLC26A2, SLC26A4, SLC26A5, SLC39A8, SLC44A4, SLC4A11, SLITRK6, SMPX, SNAI2, SNX14, SOST, SOX10, SOX2, SOX9, SPATA5, SPECC1L, SPRY4, STAMBP, STRC, SYNE4, SYT2, TANGO2, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TNC, TNFRSF11B, TP63, TPRN, TRIOBP, TSHZ1, TSR2, TWIST1, TWIST2, TXNL4A, UBR1, USH1C, USH1G, USH2A, VHL, VPS11, WAC, WFS1, XPNPEP3, XRCC4, XYLT2, YAP1, ZBTB20, ZNF469, ZNF687, MT-ATP8, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6, MT-RNR2, MT-TA, MT-TR, MT-TN, MT-TD, MT- TC, MT-TE, MT-TQ, MT-TG, MT-TH, MT-TI, MT-TL1, MT-TL2, MT-TK, MT-TM, MT-TF, MT-TP, MT- TS1, MT-TS2, MT-TT, MT-TW, MT-TY, MT-TV, MT-RNR1, MT-RNR2.
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This test includes: ABHD12, ACTG1, ACVR1, ADAM17, AFF4, AIFM1, ALMS1, ALX3, AMER1, ANKH, ARHGDIA, ATP2B2, ATP6V1B1, ATP6V1B2, B3GAT3, BSND, BTK, CACNA1D, CCBE1, CCDC50, CCND1, CD164, CDH23, CEACAM16, CEP78, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COLEC11, CRYM, DCDC2, DCHS1, DDX3X, DFNA5, DFNB31, DFNB59, DHODH, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAAF3, DSPP, DUSP6, DVL1, DVL3, EDN1, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPG5, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FANCI, FAT4, FDXR, FGF10, FGF3, FGFR1, FGFR2, FGFR3, FIBP, FLNB, FLRT3, FOXI1, FRAS1, FREM2, GAS8, GATA3, GDF6, GIPC3, GJB2, GJB3, GJB6, GLYCTK, GMNN, GPR98, GPSM2, GRHL2, GRIP1, GRXCR1, GRXCR2, GSC, GTF2E2, GUCY2D, GZF1, HAAO, HACE1, HARS2, HOMER2, HOXA11, HOXA2, HSD17B4, IL17RD, IMPAD1, IRX5, KARS, KAT6B, KCNE1, KCNH1, KCNJ10, KCNQ1, KCNQ4, KITLG, KMT2A, LARS, LARS2, LEP, LHFPL5, LMX1B, LONP1, LOXHD1, LRP4, LRP5, LRTOMT, MAF, MAFB, MAPRE2, MASP1, MCM2, MECOM, MEGF8, MEOX1, MET, MGP, MIR96, MITF, MORC2, MYCN, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NLRP3, NOG, NOTCH2, OPA1, OSBPL2, OTOF, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PCNA, PDZD7, PET100, PEX1, PEX6, PIK3CD, PIK3R1, PNPT1, POGZ, POLD1, POLR1A, POLR1C, POLR1D, POR, POU3F4, POU4F3, PRDM5, PRKAR1A, PRKDC, PROKR2, PRPS1, PRRX1, PTPRQ, PYCR2, RAB23, RAC1, RBMX, RCBTB1, RDH11, RNASET2, RPL11, RPS23, RPS26, RPS28, SALL1, SALL4, SC5D, SERPINB6, SGPL1, SIX1, SLC17A8, SLC26A2, SLC26A4, SLC26A5, SLC39A8, SLC44A4, SLC4A11, SLITRK6, SMPX, SNAI2, SNX14, SOST, SOX10, SOX2, SOX9, SPATA5, SPECC1L, SPRY4, STAMBP, STRC, SYNE4, SYT2, TANGO2, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TNC, TNFRSF11B, TP63, TPRN, TRIOBP, TSHZ1, TSR2, TWIST1, TWIST2, TXNL4A, UBR1, USH1C, USH1G, USH2A, VHL, VPS11, WAC, WFS1, XPNPEP3, XRCC4, XYLT2, YAP1, ZBTB20, ZNF469, ZNF687 |
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This test includes: ABHD12, ACTG1, ACVR1, ADAM17, AFF4, AIFM1, ALMS1, ALX3, AMER1, ANKH, ARHGDIA, ATP2B2, ATP6V1B1, ATP6V1B2, B3GAT3, BSND, BTK, CACNA1D, CCBE1, CCDC50, CCND1, CD164, CDH23, CEACAM16, CEP78, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, COLEC11, CRYM, DCDC2, DCHS1, DDX3X, DFNA5, DFNB31, DFNB59, DHODH, DIABLO, DIAPH1, DIAPH3, DLX5, DMXL2, DNAAF3, DSPP, DUSP6, DVL1, DVL3, EDN1, EDN3, EDNRA, EDNRB, EFTUD2, ELMOD3, EPG5, EPS8L2, ESPN, ESRRB, EYA1, EYA4, FANCI, FAT4, FDXR, FGF10, FGF3, FGFR1, FGFR2, FGFR3, FIBP, FLNB, FLRT3, FOXI1, FRAS1, FREM2, GAS8, GATA3, GDF6, GIPC3, GJB2, GJB3, GJB6, GLYCTK, GMNN, GPR98, GPSM2, GRHL2, GRIP1, GRXCR1, GRXCR2, GSC, GTF2E2, GUCY2D, GZF1, HAAO, HACE1, HARS2, HOMER2, HOXA11, HOXA2, HSD17B4, IL17RD, IMPAD1, IRX5, KARS, KAT6B, KCNE1, KCNH1, KCNJ10, KCNQ1, KCNQ4, KITLG, KMT2A, LARS, LARS2, LEP, LHFPL5, LMX1B, LONP1, LOXHD1, LRP4, LRP5, LRTOMT, MAF, MAFB, MAPRE2, MASP1, MCM2, MECOM, MEGF8, MEOX1, MET, MGP, MIR96, MITF, MORC2, MYCN, MYH14, MYH9, MYO3A, MYO6, MYO7A, MYO15A, NARS2, NLRP3, NOG, NOTCH2, OPA1, OSBPL2, OTOF, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PCNA, PDZD7, PET100, PEX1, PEX6, PIK3CD, PIK3R1, PNPT1, POGZ, POLD1, POLR1A, POLR1C, POLR1D, POR, POU3F4, POU4F3, PRDM5, PRKAR1A, PRKDC, PROKR2, PRPS1, PRRX1, PTPRQ, PYCR2, RAB23, RAC1, RBMX, RCBTB1, RDH11, RNASET2, RPL11, RPS23, RPS26, RPS28, SALL1, SALL4, SC5D, SERPINB6, SGPL1, SIX1, SLC17A8, SLC26A2, SLC26A4, SLC26A5, SLC39A8, SLC44A4, SLC4A11, SLITRK6, SMPX, SNAI2, SNX14, SOST, SOX10, SOX2, SOX9, SPATA5, SPECC1L, SPRY4, STAMBP, STRC, SYNE4, SYT2, TANGO2, TBC1D24, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TMC1, TMIE, TMPRSS3, TNC, TNFRSF11B, TP63, TPRN, TRIOBP, TSHZ1, TSR2, TWIST1, TWIST2, TXNL4A, UBR1, USH1C, USH1G, USH2A, VHL, VPS11, WAC, WFS1, XPNPEP3, XRCC4, XYLT2, YAP1, ZBTB20, ZNF469, ZNF687, MT-ATP8, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6, MT-RNR2, MT-TA, MT-TR, MT-TN, MT-TD, MT- TC, MT-TE, MT-TQ, MT-TG, MT-TH, MT-TI, MT-TL1, MT-TL2, MT-TK, MT-TM, MT-TF, MT-TP, MT- TS1, MT-TS2, MT-TT, MT-TW, MT-TY, MT-TV, MT-RNR1, MT-RNR2. |
Special Instructions
This assay is not currently available for New York state.
Expected Turnaround Time
28 days
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Specimen Requirements
Specimen
Whole blood, oral swab
Volume
4 mL, 1 swab
Container
Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only
Storage Instructions
Maintain specimen at room temperature until ready to ship; ship samples at ambient temperature ASAP.
Stability Requirements
• Room temperature: Blood: 5 days; Swab: 60 days
• Refrigerated: Blood: 5 days; Swab: 60 days
• Frozen: Do not freeze
Causes for Rejection
Frozen blood EDTA tube; insufficient swab cell collection; blood sample hemolyzed or clotted
Test Details
Use
Hearing loss is one of the most common neurosensory disorders and can be genetic or acquired. Hearing loss can affect a person either at birth (congenital) or acquired at any stage of life, even if genetic in etiology.1 Determining the cause or origin of hearing loss in a patient is beneficial as it can enable a personalized approach to their care and treatment options if available. Syndromic hearing loss is characterized as hearing loss accompanied with other symptoms and accounts for 30% of all genetic hearing loss caes.1 Common hearing loss syndromes include Usher, which also causes loss of vision, Waardenburg, which is accompanied by changes in coloring and pigmentation of the hair skin and eyes, and Pendred, which causes dysfunction of the kidneys and thyroid.1-3 Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. This type of hearing loss can affect one ear (unilateral) or both ears (bilateral), and can range in severity of loss from mild to profound, often referred to as “deafness.” In addition to autosomal dominant and recessive forms, nonsyndromic hearing loss can also be classified as X-linked or mitochondrial.4
Limitations
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.
Methodology
Next-Generation Sequencing
Footnotes
1. Koffler T, Ushakov K, Avraham KB. Genetics of Hearing Loss: Syndromic. Otolaryngol Clin North Am. 2015 Dec;48(6):1041-1061.26443487
2. National Institutes of Heath, U.S. National Library of Medicine. Usher syndrome. Genetics Home Reference web site. https://ghr.nlm.nih.gov/condition/usher-syndrome. Accessed May 13, 2020.
3. National Institutes of Heath, U.S. National Library of Medicine. Waardenburg syndrome. Genetics Home Reference web site. https://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed May 13, 2020.
4. National Institutes of Heath, U.S. National Library of Medicine. Nonsyndromic hearing loss. Genetics Home Reference web site. https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss. Accessed May 13, 2020.
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 630628 | Comp Hearing Loss Panel | 630629 | Result | 50697-9 | ||
| 630628 | Comp Hearing Loss Panel | 630630 | Interpretation | 56850-1 | ||
| 630628 | Comp Hearing Loss Panel | 630631 | Footnotes | 8251-1 | ||
| 630628 | Comp Hearing Loss Panel | 630868 | 80563-0 |
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