Labcorp 500 PLUS Carrier Panel

This test is used for pan-ethnic carrier screening and includes more than 500 clinically relevant genetic disorders, including all the genes  in the 14-Gene, 100 PLUS and 300 PLUS Panels.

Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.

The genes BCHE, F2,F5, F11, G6PD, GP1BA, GP9, HFE, HGD, TFR2 and SERPINA1 are available as an add-on panel which can be ordered at the same time as the primary panel. Genes in the add-on panel do not meet the criteria for primary carrier screening and should be considered in the context of individual patient testing.

This test includes the following genes: AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, AGA, AGL, AGPAT2, AGPS, AGXT, AHI1, AICDA, AIPL1, AIRE, AK2, ALDH3A2, ALDH7A1, ALDOB, ALG1, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMPD2, AMT, ANO10, ANTXR2, AP3B1, ARG1, ARL13B, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7A, ATP7B, ATP8B1, ATRX, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BRIP1, BSND, BTD, BTK, C19orf12, CAD, CAPN3, CAVIN1 (PTRF), CBS, CC2D2A, CCDC8, CCDC88C, CCN6 (WISP3), CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CDCA7, CDH23, CEP104, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGB1, CNGB3, CNTNAP2, COASY, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CORO1A, CP, CPLANE1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CTC1, CTNS, CTSA, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYBB, CYP11A1, CYP11B1, CYP17A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DHCR7, DHDDS, DLD, DMD, DNMT3B, DOCK8, DOK7, DTNBP1, DYNC2H1, DYSF, EDA, EFEMP2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC2, EXOSC3, EYS, F9, FA2H, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXL4, FHL1, FKBP10, FKRP, FKTN, FMO3, FMR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FUCA1, G6PC1 (G6PC), GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA1 (GBA), GBE1, GCDH, GFM1, GFPT1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GPHN, GRHPR, GRIP1, GSS, GUSB, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HEXA, HEXB, HGSNAT, HINT1, HJV, HLCS, HMGCL, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B4, HSD3B2, HYAL1, HYCC1 (FAM126A), HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, ITPA, IVD,  JAK3, KCNJ1, KCTD7, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARS1 (LARS), LCA5, LCK, LHX3, LIFR, LIG4, LIPA, LMBRD1, LOXHD1, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT (MUT), MOCS1, MOCS2 (MOCS2A/B), MPI, MPL, MPV17, MTHFD1, MTM1, MTRR, MTTP, MVK, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBN, NCF2, NCF4, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NTRK1, OAT, OBSL1, OCA2, OCRL, OPA3, OSTM1, OTC, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PKHD1, PLA2G6, PLEKHG5, PLOD2, PLP1, PMM2, PNP, PNPLA1, PNPO, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU3F4, PPIB, PPT1, PRCD, PRDM5, PRF1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RD3, RDH12, RFX5, RFXANK, RFXAP, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RS1, SACS, SAMHD1, SCO2, SDCCAG8, SDR9C7, SELENON, SEPSECS, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SKIC2 (SKIV2L), SKIC3 (TTC37), SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A4, SLC27A4, SLC2A10, SLC35A3, SLC37A4, SLC39A4, SLC46A1, SLC4A11, SLC6A8, SLC7A7, SMARCAL1, SMN1, SMPD1, SP110, SPATA7, SPG11, SPG21, STAR, STK4, STX11, STXBP2, SUMF1, SUOX, SURF1, SYNE4, TAFAZZIN (TAZ), TAT, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TF, TGM1, TH, TK2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TNFSF11, TNXB, TPP1, TRAPPC11, TRIM32, TRMU, TSEN2, TSEN54, TSFM, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, UNC13D, UNG, USH1C, USH1G, USH2A, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, WAS, WHRN, WNT1, WRN, XPA, XPC, ZAP70, ZBTB24 and ZNF469.

Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions.

Variant classification and/or interpretation may change over time if more information becomes available. Updated classifications are available upon request. False positive or false negative results may occur for reasons that include: rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.

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

Next-generation sequencing: identifies genetic variants, including single nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

Fragile X syndrome: cytosine-guanine-guanine (CGG) triplet repeats in the 5' untranslated region (5' UTR) of the FMR1 gene are detected by triplet repeat-primed PCR (RP-PCR) with fluorescently labeled primers followed by capillary electrophoresis.

Confirmation of the presence and location of reportable variants is performed as needed based on stringent criteria using one of several validated orthogonal approaches.¹

Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10)1793-1806. PubMed 34285390

Guha S, Reddi HV, Aarabi M, et al. Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2024 Jul;26(7):101137. PubMed 38814327