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Inheritest® 300 PLUS Panel

Test Number 481874
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: 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.

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.

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
481874 Inheritest 300 PLUS Panel 19102-3 481856 Genes 48018-6
481874 Inheritest 300 PLUS Panel 19102-3 481857 Ethnicity 46463-6
481874 Inheritest 300 PLUS Panel 19102-3 481858 Specimen Type 31208-2
481874 Inheritest 300 PLUS Panel 19102-3 481859 Genetic Counselor 89993-0
481874 Inheritest 300 PLUS Panel 19102-3 481860 Indication 42349-1
481874 Inheritest 300 PLUS Panel 19102-3 481861 Result: 19102-3
481874 Inheritest 300 PLUS Panel 19102-3 481862 Interpretation 53039-4
481874 Inheritest 300 PLUS Panel 19102-3 481863 General Comments 8262-8
481874 Inheritest 300 PLUS Panel 19102-3 481864 Recommendations 62385-0
481874 Inheritest 300 PLUS Panel 19102-3 481865 Additional ClinicalInformation 55752-0
481874 Inheritest 300 PLUS Panel 19102-3 481866 Comments 8251-1
481874 Inheritest 300 PLUS Panel 19102-3 481867 Methods/Limitations 49549-9
481874 Inheritest 300 PLUS Panel 19102-3 481868 References 75608-0
481874 Inheritest 300 PLUS Panel 19102-3 481869 Disorders Tested 19102-3
481874 Inheritest 300 PLUS Panel 19102-3 481870 Director Review/Release 72486-4
481874 Inheritest 300 PLUS Panel 19102-3 481871 PDF 51969-4
481874 Inheritest 300 PLUS Panel 19102-3 481873 Patient Gender 76691-5
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481856
Result Code NameGenes
UofM
Result LOINC48018-6
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481857
Result Code NameEthnicity
UofM
Result LOINC46463-6
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481858
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481859
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481860
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481861
Result Code NameResult:
UofM
Result LOINC19102-3
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481862
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481863
Result Code NameGeneral Comments
UofM
Result LOINC8262-8
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481864
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481865
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481866
Result Code NameComments
UofM
Result LOINC8251-1
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481867
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481868
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481869
Result Code NameDisorders Tested
UofM
Result LOINC19102-3
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481870
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481871
Result Code NamePDF
UofM
Result LOINC51969-4
Order Code481874
Order Code NameInheritest 300 PLUS Panel
Order Loinc19102-3
Result Code481873
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 482144 INH 300 PLUS + Fragile X 482142 INH 300 PLUS NGSBC N/A
Reflex 1
Order Code482144
Order NameINH 300 PLUS + Fragile X
Result Code482142
Result NameINH 300 PLUS NGSBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482144 INH 300 PLUS + Fragile X 482143 FRAXBC N/A
Reflex 1
Order Code482144
Order NameINH 300 PLUS + Fragile X
Result Code482143
Result NameFRAXBC
UofM
Result LOINCN/A
Reflex Table for Patient Gender
Order Code Order Name Result Code Result Name UofM Result LOINC
Reflex 1 482145 INH 300 PLUS NGSBC 482145 INH 300 PLUS NGSBC N/A
Reflex 1
Order Code482145
Order NameINH 300 PLUS NGSBC
Result Code482145
Result NameINH 300 PLUS NGSBC
UofM
Result LOINCN/A