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Synonyms
- Carrier screening
- Expanded carrier testing
- Pan-ethnic carrier screening
Test Details
Turnaround Time
14 - 21 days (In some cases, additional time may be required for confirmatory or reflex tests.)
Use
This test is used for pan-ethnic carrier screening and includes more than 300 clinically relevant genetic disorders, including all the genes in the 14-Gene and 100 PLUS panels as well as additional genes in the American College of Medical Genetics (ACMG) Tier 3 category, focusing on high-frequency disorders.
Special Instructions
Males are not tested for x-linked disorders, including fragile X syndrome.
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing.
Test Includes
This test includes the following genes: ABCA3, ABCC8, ABCD1, ABCD4, ACADM, ACADVL, ACAT1, ADA, ADAMTS2, ADGRV1, AGA, AGL, AGPS, AGXT, AHI1, AIRE, AK2, ALDH3A2, ALDOB, ALG1, ALG6, ALMS1, ALPL, AMT, ANO10, ARL13B, ARL6, ARSA, ARSB, ARX, ASL, ASPA, ASS1, ATM, ATP7B, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BLM, BRIP1, BTD, CAPN3, CBS, CC2D2A, CCDC88C, CD247, CD3D, CD3E, CD3G, CD8A, CDH23, CEP104, CEP290, CERKL, CFTR, CHRNE, CIB2, CLCN1, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGB1, CNGB3, COL4A3, COL4A4, COL4A5, COL7A1, CORO1A, CPLANE1, CPS1, CPT2, CTNS, CTSA, CTSD, CTSF, CWC27, CYP11A1, CYP11B1, CYP17A1, CYP21A2, CYP27A1, CYP27B1, DBT, DCLRE1C, DDB2, DHCR7, DHDDS, DLD, DMD,DOCK8, DPYD, DYNC2H1, DYSF, ELP1, ERCC2, ERCC3, ERCC4, ERCC5, ETHE1, EVC2, EYS, F9, FAH, FAM161A, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBXL4, FKRP, FKTN, FMO3, FMR1, FOXN1, FOXRED1, FRAS1, FREM2, FUCA1, G6PC1, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA1 (previously known as GBA), GBE1, GCDH, GJB2, GLA, GLB1, GLDC, GNPAT, GNPTAB, GNS, GRHPR, GRIP1, GSS, GUSB, HADHA, HBA1, HBA2, HBB, HCFC1, HEXA, HEXB, HGSNAT, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HSD3B2, HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, IVD, JAK3, KCTD7, KIF14, L1CAM, LAMA3, LAMB3, LAMC2, LCK, LIG4, LIPA, LMBRD1, LOXHD1, LRP2, LRPPRC, MAK, MALT1, MAN2B1, MANBA, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MEFV, MFSD8, MID1, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MMUT, MPI, MPL, MTHFD1, MTTP, MVK, NAGA, NAGLU, NBN, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NHEJ1, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, OCA2, OTC, OTOF, PAH, PCCA, PCCB, PCDH15, PDHA1, PDHB, PDHX, PDP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM3, PHGDH, PKHD1, PLP1, PMM2, PNP, POLG, POLH, POMGNT1, POMT1, POMT2, POR, POU3F4, PPT1, PRCD, PRF1, PRKDC, PSAP, PTPRC, RAG1, RAG2, RARS2, RLBP1, RMRP, RNASEH2B, RP2, RPGR, RPGRIP1L, RS1, SACS, SCO2, SDCCAG8, SGCA, SGCB, SGCD, SGCG, SGSH, SLC12A6, SLC17A5, SLC19A3, SLC22A5, SLC25A13, SLC25A20, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC6A8, SMN1, SMPD1, STAR, STK4, STX11, STXBP2, SUMF1, SURF1, SYNE4, TCTN1, TCTN2, TCTN3, TF, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNXB, TPP1, TRAPPC11, TRIM32, TTC7A, TTC8, TTPA, TYR, UNC13D, USH1C, USH1G, USH2A, VPS13B, WHRN, XPA, XPC and ZAP70.
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. 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.
Methodology
Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Spinal muscular atrophy (SMA): Copy number assessment of SMN1 exon 7 by quantitative polymerase chain reaction (qPCR). For carrier screening, when two copies of SMN1 are detected, allelic discrimination qPCR targeting c.*3+80T>G in SMN1 is performed. The presence or absence of c.*3+80T>G correlates with an increased or decreased risk, respectively, of being a silent carrier (2+0).
Fragile X syndrome: Polymerase chain reaction (PCR) followed by capillary electrophoresis, with reflex to AGG interruption analysis and methylation PCR analysis for positive samples.
Related Documents
For more information, please view the literature below.
Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS
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):1793-1806.34285390
Specimen Requirements
Information on collection, storage, and volume
Specimen
Whole blood or Oragene Dx 500 saliva kit
Volume
8.5 mL whole blood or Oragene Dx saliva kit
Minimum Volume
3 mL whole blood or Oragene Dx saliva kit
Container
Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or Oragene Dx 500 saliva collection kit
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; improper container or blood specimens more than four days post draw
Collection
Standard phlebotomy; follow Oragene Dx 500 saliva kit collection instructions. Do not eat, drink, smoke or chew gum 30 minutes prior to collection.