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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.
Expected Turnaround Time
14 - 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.
Genes Assessed
Specimen Requirements
Specimen
Whole blood at room temperature; oral swab; extracted DNA (from blood, oral swab or muscle only) or frozen muscle tissue
Volume
Whole blood: 4 mL; oral swab: 3 swabs; muscle: 75 milligrams; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Minimum Volume
Whole blood: 2 mL; oral swab: 1 swab; muscle: 50 milligrams; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Container
Whole blood: lavender-top (EDTA) tube; oral swab: OCD-100 DNA Genotek; muscle: sterile screw-capped vial; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Collection
Whole blood: standard phlebotomy; oral swab: follow kit instructions; muscle: snap freeze in liquid nitrogen and maintain at -80°C; or extracted DNA: contact MNG Genetic Services 844-664-8378 (844-MNGTEST)
Storage Instructions
Maintain whole blood and oral swab specimens at room temperature or refrigerate at 4°C. Do not freeze. Muscle specimen: Maintain frozen and ship on dry ice.
Stability Requirements
• Room temperature: whole blood: 14 days; swab: 60 days; muscle: 0 days
• Refrigerated: whole blood: 30 days; swab: 60 days; muscle; 0 days
• Frozen: muscle: 15 years
Causes for Rejection
Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature
Test Details
Use
Diagnostic testing
Limitations
This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.
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 to identify single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs); for the mitochondrial genome, next generation sequencing of long range PCR products
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.
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