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Labcorp Partner Single Gene Analysis

CPT

Contact CPT coding department at 800-222-7566, ext. 6-8400.

Synonyms

Carrier screening; Pan-ethnic carrier screening; Expanded carrier testing

Test Details

Methodology

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

Result Turnaround Time

10 - 21 days

In some cases, additional time may be required for confirmatory or reflex tests.

 

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 the following genes: AAAS, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCC2, ABCC8, ABCD1, ABCD4, ACAD9, ACADM, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADAMTSL4, ADGRG1, ADGRV1, ADK, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AHI1, AICDA, AIMP1, AIPL1, AIRE, AK2, AKR1D1, ALDH3A2, ALDH4A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG13, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMH, AMHR2, AMN, AMPD2, AMT, ANO10, ANO5, ANTXR2, AP1S1, AP1S2, AP3B1, AQP2, AR, ARG1, ARL13B, ARL6, ARSA, ARSB, ARSL (ARSE), 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, BMPER, BRIP1, BRWD3, BSND, BTD, BTK, C19orf12, CAD, CANT1, CAPN3, CASQ2, CASR, CAVIN1 (PTRF), CBS, CC2D1A, CC2D2A, CCDC39, CCDC8, CCDC88C, CCN6 (WISP3), CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD8A, CDAN1, CDCA7, CDH23, CEP104, CEP152, CEP290, CERKL, CERS3, CFAP408 (C8orf37), CFTR, CHAT, CHM, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCN5, CLCNKB, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNTNAP2, COA8 (APOPT1), COASY, COL11A2, COL17A1, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, COQ4, CORO1A, COX10, COX15, COX20, COX6B1, CP, CPLANE1, CPS1, CPT1A, CPT2, CRADD, CRB1, CRLF1, CRTAP, CTC1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUL4B, CUL7, CWC27, CYBA, CYBB, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DCX, DDB2, DDC, DDR2, DDX11, DGAT1, DGUOK, DHCR24, DHCR7, DHDDS, DKC1, DLAT, DLD, DLG3, DLL3, DMD, DNAAF19 (CCDC103), DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3B, DOCK8, DOK7, DOLK, DTNBP1, DUOX2, DUOXA2, DYNC2H1, DYSF, EDA, EFEMP2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EMD, EPB42, EPG5, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS, F7, F9, FA2H, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBP1, FBXL4, FBXO7, FGD1, FH, FHL1, FKBP10, FKRP, FKTN, FMO3, FMR1, FOLR1, FOXN1, FOXP3, FOXRED1, FRAS1, FREM2, FTCD, FTSJ1, FUCA1, G6PC1 (G6PC), G6PC3, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATM, GBA1 (GBA), GBE1, GCDH, GCH1, GDAP1, GDF5, GFM1, GFPT1, GHR, GHRHR, GJB1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNRHR, GNS, GORAB, GPHN, GPR143, GRHPR, GRIP1, GSS, GUCY2D, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HCFC1, HELLS, HEXA, HEXB, HGSNAT, HINT1, HJV, HLCS, HMGCL, HMGCS2, HMOX1, HOGA1, HPD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HYAL1, HYCC1 (FAM126A), HYLS1, IDH3B, IDS, IDUA, IFT140, IGHMBP2, IGSF1, IKBKB, IL1RAPL1, IL2RA, IL2RG, IL7R, INPP5E, INVS, ITGA2B, ITGA6, ITGB3, ITGB4, ITPA, IVD, IYD, JAK3, KCNJ1, KCNJ11, KCTD7, KDM5C, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARGE1, LARS1 (LARS), LCA5, LCK, LDLR, LDLRAP1, LHCGR, LHX3, LIFR, LIG4, LIPA, LMAN1, LMBRD1, LOXHD1, LPAR6, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MECP2, MECR, MED17, MEFV, MEGF8, MESP2, MFSD8, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MMUT (MUT), MOCS1, MOCS2 (MOCS2A/B), MPI, MPL, MPV17, MRE11, MTHFD1, MTHFR, MTM1, MTMR2, MTR, MTRR, MTTP, MUSK, MVK, MYO15A, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBEAL2, NBN, NCF2, NCF4, NDP, NDRG1, NDUFA11, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NONO, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR2E3, NSMCE3, NTRK1, OAT, OBSL1, OCA2, OCRL, ODAD3 (CCDC151), OPA3, OPHN1, OSTM1, OTC, OTOA, OTOF, P3H1, PAH, PAK3, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PCNT, PDE6A, PDHA1, PDHB, PDHX, PDP1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGK1, PGM3, PHF8, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHYH, PIGN, PIP5K1C, PJVK (DFNB59), PKHD1, PLA2G6, PLEKHG5, PLOD1, PLOD2, PLP1, PMM2, PNP, PNPLA1, PNPO, POC1A, POLG, POLH, POLR1C, POMGNT1, POMT1, POMT2, POR, POU1F1, POU3F4, PPIB, PPT1, PQBP1, PRCD, PRDM5, PRF1, PRICKLE1, PRKDC, PROP1, PRPS1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RAX, RD3, RDH12, RDH5, RFX5, RFXANK, RFXAP, RHAG, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RP2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPS6KA3, RS1, RSPH9, RTEL1, RXYLT1, RYR1, SACS, SAG, SAMD9, SAMHD1, SARS2, SCO1, SCO2, SDCCAG8, SDR9C7, SEC23B, SELENON, SEPSECS, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SH3TC2, SKIC2 (SKIV2L), SKIC3 (TTC37), SLC12A1, SLC12A3, SLC12A6, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC26A4, SLC27A4, SLC2A10, SLC2A2, SLC34A3, SLC35A3, SLC37A4, SLC38A8, SLC39A4, SLC3A1, SLC45A2, SLC46A1, SLC4A1, SLC4A11, SLC5A5, SLC6A19, SLC6A8, SLC7A7, SLC7A9, SMARCAL1, SMN1, SMPD1, SNAP29, SNX10, SP110, SPATA7, SPG11, SPG21, SPG7, SPINK5, SPR, SRD5A2, ST3GAL5, STAR, STK4, STX11, STXBP2, SUCLA2, SUMF1, SUOX, SURF1, SYN1, SYNE4, TAFAZZIN (TAZ), TANGO2, TAT, TBCD, TBCE, TBX19, TCIRG1, TCN2, TCTN1, TCTN2, TCTN3, TECPR2, TERT, TF, TG, TGM1, TH, THOC2, TK2, TMC1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TMPRSS3, TNFSF11, TNXB, TPO, TPP1, TRAPPC11, TRDN, TREX1, TRHR, TRIM32, TRIM37, TRMU, TRPM6, TSEN2, TSEN54, TSFM, TSHB, TSHR, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, TYRP1, UBR1, UNC13D, UNG, UPF3B, USH1C, USH1G, USH2A, VDR, VLDLR, VPS11, VPS13A, VPS13B, VPS45, VPS53, VRK1, VSX2, WAS, WHRN, WNT1, WNT10A, WRN, XPA, XPC, ZAP70, ZBTB24, ZDHHC9, ZFYVE26, ZNF469, ZNF711, BCHE, F11, F2, F5, G6PD, GP1BA, GP9, HFE, HGD, SERPINA1, TFR2, ACADS, AFF2, F8, FXN and MAT1A.

Use

This test is used for carrier screening.

Special Instructions

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

Limitations

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.

Specimen Requirements

Specimen

Whole blood or Oragene Dx 500 saliva kit

Volume

4 mL whole blood or Oragene Dx saliva kit

Minimum Volume

3 mL whole blood or Oragene Dx saliva kit

Container

Lavender-top (EDTA) tube or Oragene Dx 500 Saliva Collection Kit

Collection Instructions

Standard phlebotomy; follow Oragene Dx 500 Saliva Collection Kit instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

Stability Requirements

  • Whole blood: 90 days at room temperature or 4°C
  • Saliva: 60 days at room temperature

Storage Instructions

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

Causes for Rejection

Frozen or hemolyzed specimen; quantity not sufficient for analysis or in improper container; specimen from an individual who has undergone allogeneic bone marrow transplant

References

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

Footnotes

Lincoln SE, Truty R, Lin CF, et al. A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal Method in Clinical Genetic Testing. J Mol Diagn. 2019 Mar;21(2):318-329. PubMed 30610921

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
898105 Partner Single Gene Analysis 898980 Corrected/Amended Comments 91582-7
898105 Partner Single Gene Analysis 899017 Additional Information 55752-0
898105 Partner Single Gene Analysis 898981 Result 51968-6
898105 Partner Single Gene Analysis 898986 Summary N/A
898105 Partner Single Gene Analysis 898988 Clinical Summary N/A
898105 Partner Single Gene Analysis 898987 Clinical Comments N/A
898105 Partner Single Gene Analysis 898984 Inheritance N/A
898105 Partner Single Gene Analysis 898985 Partner Testing Recommended 77202-0
898105 Partner Single Gene Analysis 899016 Results to Note 106173-8
898105 Partner Single Gene Analysis 898982 Next Steps 107556-3
898105 Partner Single Gene Analysis 898990 Variant Details 82939-0
898105 Partner Single Gene Analysis 898983 About Test N/A
898105 Partner Single Gene Analysis 898992 Genes Analyzed N/A
898105 Partner Single Gene Analysis 898991 Residual Risk 8251-1
898105 Partner Single Gene Analysis 898993 Method 49549-9
898105 Partner Single Gene Analysis 898995 Disclaimer 62364-5
898105 Partner Single Gene Analysis 898994 Limitations 62364-5
898105 Partner Single Gene Analysis 899018 Limitations Continued 8251-1
898105 Partner Single Gene Analysis 898996 Director Review/Release 72486-4
898105 Partner Single Gene Analysis 898112 PDF N/A
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898980
Result Code NameCorrected/Amended Comments
UofM
Result LOINC91582-7
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code899017
Result Code NameAdditional Information
UofM
Result LOINC55752-0
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898981
Result Code NameResult
UofM
Result LOINC51968-6
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898986
Result Code NameSummary
UofM
Result LOINCN/A
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898988
Result Code NameClinical Summary
UofM
Result LOINCN/A
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898987
Result Code NameClinical Comments
UofM
Result LOINCN/A
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898984
Result Code NameInheritance
UofM
Result LOINCN/A
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898985
Result Code NamePartner Testing Recommended
UofM
Result LOINC77202-0
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code899016
Result Code NameResults to Note
UofM
Result LOINC106173-8
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898982
Result Code NameNext Steps
UofM
Result LOINC107556-3
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898990
Result Code NameVariant Details
UofM
Result LOINC82939-0
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898983
Result Code NameAbout Test
UofM
Result LOINCN/A
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898992
Result Code NameGenes Analyzed
UofM
Result LOINCN/A
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898991
Result Code NameResidual Risk
UofM
Result LOINC8251-1
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898993
Result Code NameMethod
UofM
Result LOINC49549-9
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898995
Result Code NameDisclaimer
UofM
Result LOINC62364-5
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898994
Result Code NameLimitations
UofM
Result LOINC62364-5
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code899018
Result Code NameLimitations Continued
UofM
Result LOINC8251-1
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898996
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code898105
Order Code NamePartner Single Gene Analysis
Order Loinc
Result Code898112
Result Code NamePDF
UofM
Result LOINCN/A