Test Details
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
Result 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.
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.
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.
Footnotes
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 Instructions
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)
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
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.
Causes for Rejection
Hemolyzed; quantity not sufficient for analysis; improper container; improper storage temperature
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 630628 | Comp Hearing Loss Panel | 99972-2 | 630629 | Result | 50397-9 | |
| 630628 | Comp Hearing Loss Panel | 99972-2 | 630630 | Interpretation | 56850-1 | |
| 630628 | Comp Hearing Loss Panel | 99972-2 | 630631 | Footnotes | 8251-1 | |
| 630628 | Comp Hearing Loss Panel | 99972-2 | 630868 | 80563-0 | ||
| Order Code | 630628 | |||||
| Order Code Name | Comp Hearing Loss Panel | |||||
| Order Loinc | 99972-2 | |||||
| Result Code | 630629 | |||||
| Result Code Name | Result | |||||
| UofM | ||||||
| Result LOINC | 50397-9 | |||||
| Order Code | 630628 | |||||
| Order Code Name | Comp Hearing Loss Panel | |||||
| Order Loinc | 99972-2 | |||||
| Result Code | 630630 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | 56850-1 | |||||
| Order Code | 630628 | |||||
| Order Code Name | Comp Hearing Loss Panel | |||||
| Order Loinc | 99972-2 | |||||
| Result Code | 630631 | |||||
| Result Code Name | Footnotes | |||||
| UofM | ||||||
| Result LOINC | 8251-1 | |||||
| Order Code | 630628 | |||||
| Order Code Name | Comp Hearing Loss Panel | |||||
| Order Loinc | 99972-2 | |||||
| Result Code | 630868 | |||||
| Result Code Name | ||||||
| UofM | ||||||
| Result LOINC | 80563-0 |