Comprehensive Hearing Loss NGS Panel + mtDNA

CPT: 81430; 81431; 81460; 81465
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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.


Expected Turnaround Time

14 - 28 days


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 50397-9
630628 Comp Hearing Loss Panel 630630 Interpretation 56850-1
630628 Comp Hearing Loss Panel 630631 Footnotes 8251-1
630628 Comp Hearing Loss Panel 630868 PDF 80563-0

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