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Inheritest® 500 PLUS Panel

Test Number 481893
Test number copied
CPT Contact CPT coding department at 800-222-7566, ext. 6-8400.
Synonyms
  • Carrier screening
  • Expanded carrier testing
  • Pan-ethnic carrier screening

Test Details

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.

Result Turnaround Time

14 - 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.

Related Documents

For more information, please view the literature below.

Clinical Questionnaire for Inheritest® Carrier Screen and GeneSeq® PLUS

Test Includes

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, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BRIP1, BSND, BTD, BTK, C19orf12, CAD, CAPN3, CAVIN1, CBS, CC2D2A, CCDC8, CCDC88C, CCN6, 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, DPYD, 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, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATM, GBA1 (previously known as 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 (previously known as FAM126A), HYLS1, IDS, IDUA, IFT140, IKBKB, IL2RA, IL2RG, IL7R, INPP5E, ITPA, IVD, JAK3, KCNJ1, KCTD7, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LARS1, LCA5, LCK, LHX3, LIFR, LIG4, LIPA, LIPN, 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, MOCS1, MOCS2, 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 (previously known as SKIV2L), SKIC3 (previously known as 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, TAT, TAFAZZIN, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TF, TGM1, TH, TK2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TNFSF11, TNXB, TPP1, TRAPPC11, TRIM32, TRMU, TSEN2, TSEN34, 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.

Use

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.

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.

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.

Specimen Requirements

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

Collection Instructions

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

Stability Requirements

Whole blood: 4 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; improper container or blood specimens more than four days post draw

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
481893 Inheritest 500 PLUS Panel 19102-3 481875 Genes 48018-6
481893 Inheritest 500 PLUS Panel 19102-3 481876 Ethnicity 46463-6
481893 Inheritest 500 PLUS Panel 19102-3 481877 Specimen Type 31208-2
481893 Inheritest 500 PLUS Panel 19102-3 481878 Genetic Counselor 89993-0
481893 Inheritest 500 PLUS Panel 19102-3 481879 Indication 42349-1
481893 Inheritest 500 PLUS Panel 19102-3 481880 Result: 19102-3
481893 Inheritest 500 PLUS Panel 19102-3 481881 Interpretation 53039-4
481893 Inheritest 500 PLUS Panel 19102-3 481882 General Comments 8262-8
481893 Inheritest 500 PLUS Panel 19102-3 481883 Recommendations 62385-0
481893 Inheritest 500 PLUS Panel 19102-3 481884 Additional ClinicalInformation 55752-0
481893 Inheritest 500 PLUS Panel 19102-3 481885 Comments 8251-1
481893 Inheritest 500 PLUS Panel 19102-3 481886 Methods/Limitations 49549-9
481893 Inheritest 500 PLUS Panel 19102-3 481887 References 75608-0
481893 Inheritest 500 PLUS Panel 19102-3 481888 Disorders Tested 19102-3
481893 Inheritest 500 PLUS Panel 19102-3 481889 Director Review/Release 72486-4
481893 Inheritest 500 PLUS Panel 19102-3 481890 PDF 51969-4
481893 Inheritest 500 PLUS Panel 19102-3 481892 Patient Gender 76691-5
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481875
Result Code NameGenes
UofM
Result LOINC48018-6
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481876
Result Code NameEthnicity
UofM
Result LOINC46463-6
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481877
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481878
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481879
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481880
Result Code NameResult:
UofM
Result LOINC19102-3
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481881
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481882
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481883
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481884
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481885
Result Code NameComments
UofM
Result LOINC8251-1
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481886
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481887
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481888
Result Code NameDisorders Tested
UofM
Result LOINC19102-3
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481889
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481890
Result Code NamePDF
UofM
Result LOINC51969-4
Order Code481893
Order Code NameInheritest 500 PLUS Panel
Order Loinc19102-3
Result Code481892
Result Code NamePatient Gender
UofM
Result LOINC76691-5
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482148 INH 500 PLUS + Fragile X 482146 INH 500 PLUS NGSBC N/A
Reflex 1
Order Code482148
Order NameINH 500 PLUS + Fragile X
Result Code482146
Result NameINH 500 PLUS NGSBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482148 INH 500 PLUS + Fragile X 482147 FRAXBC N/A
Reflex 1
Order Code482148
Order NameINH 500 PLUS + Fragile X
Result Code482147
Result NameFRAXBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482149 INH 500 PLUS NGSBC 482149 INH 500 PLUS NGSBC N/A
Reflex 1
Order Code482149
Order NameINH 500 PLUS NGSBC
Result Code482149
Result NameINH 500 PLUS NGSBC
UofM
Result LOINCN/A