Comprehensive Hearing Loss NGS Panel + mtDNA

TEST: 630628
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CPT: 81430; 81431; 81460; 81465
Updated on 10/24/2024
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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

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

      Whole blood, oral swab

      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)

      4 mL, 1 swab

      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)

      Lavender-top (EDTA) tube, OCD-100 DNA Genotek device only

      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)

      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.

      Maintain specimen at room temperature until ready to ship; ship samples at ambient temperature ASAP.

      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

      • Room temperature: Blood: 5 days; Swab: 60 days

      • Refrigerated: Blood: 5 days; Swab: 60 days

      • Frozen: Do not freeze

      • 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

      Frozen blood EDTA tube; insufficient swab cell collection; blood sample hemolyzed or clotted

      Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature

      Test Details

      Use

      Diagnostic testing

      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

      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.

      This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration.

      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

      Next-Generation Sequencing

      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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