Inheritest® High Frequency Panel

TEST: 481816
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CPT: Contact CPT coding department at 800-222-7566, ext. 6-8400.
Updated on 07/22/2024
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Synonyms

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

Test Includes

This test includes the following genes: ABCA3, ABCC8, ABCD1, ACADM, ACADVL, ACAT1, AGA, AGXT, AHI1, AIRE, ALDOB, ALPL, ANO10, ARSA, ARX, ASL, ASPA, ATP7B, BBS1, BBS2, BCKDHB, BLM, BTD, CBS, CC2D2A, CCDC88C, CEP290, CFTR, CHRNE, CLCN1, CLRN1, CNGB3, COL7A1, CPT2, CYP11A1, CYP21A2, CYP27A1, CYP27B1, DHCR7, DHDDS, DLD, DMD, DYNC2H1, ELP1, ERCC2, EVC2, F9, FAH, FANCC, FKRP, FKTN, FMO3, FMR1, G6PC1, GAA, GALT, GBA, GBE1, GJB2, GLA, GNPTAB, GRIP1, HBA1, HBA2, HBB, HEXA, HPS1, HPS3, IDUA, L1CAM, LRP2, MCCC2, MCOLN1, MCPH1, MID1, MLC1, MMACHC, MMUT, MVK, NAGA, NEB, NPHS1, NR0B1, OCA2, OTC, PAH, PCDH15, PKHD1, PLP1, PMM2, POLG, PRF1, RARS2, RNASEH2B, RPGR, RS1, SCO2, SLC19A3, SLC26A2, SLC26A4, SLC37A4, SLC6A8, SMN1, SMPD1, TF, TMEM216, TNXB, TYR, USH2A and XPC.

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.

Expected 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

    Specimen Requirements

    Specimen

    Whole blood or Oragene Dx 500 saliva kit

    Whole blood or PurFlock buccal swab kit or Oragene Dx 500 saliva kit

    Whole blood or Oragene Dx 500 saliva ki or Oragene Dx 500 saliva kit

    Volume

    8.5 mL whole blood or Oragene Dx saliva kit

    8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

    8.5 mL whole blood or Oragene Dx saliva ki 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

    Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

    Yellow-top (ACD-A) tube or lavender-top (EDTA) tube or Oragene Dx 500 saliva collection ki or Oragene Dx 500 saliva collection kit

    Collection

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

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

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

    Storage Instructions

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

    Stability Requirements

    Whole blood: 4 days at room temperature or 4°C

    Saliva: 60 days at room temperature

    Whole blood: 4 days at room temperature or 4°C

    Buccal: 60 days at room temperature

    Saliva: 60 days at room temperature

    Whole blood: 4 days at room temperature or 4°C

    Saliva: 60 days at room temperature

    Saliva: 60 days at room temperature

    Causes for Rejection

    Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container or blood specimens more than four days post draw

    Test Details

    Use

    This test is used for pan-ethnic carrier screening and includes 110 of the genes included in the American College of Medical Genetics (ACMG) Tier 3 category.

    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.

    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.

    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.

    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.

    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.

    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
    481816 Inheritest High Frequency 481798 Genes 48018-6
    481816 Inheritest High Frequency 481799 Ethnicity 46463-6
    481816 Inheritest High Frequency 481800 Specimen Type 31208-2
    481816 Inheritest High Frequency 481801 Genetic Counselor 89993-0
    481816 Inheritest High Frequency 481802 Indication 42349-1
    481816 Inheritest High Frequency 481803 Result: 19102-3
    481816 Inheritest High Frequency 481804 Interpretation 53039-4
    481816 Inheritest High Frequency 481805 General Comments 8262-8
    481816 Inheritest High Frequency 481806 Recommendations 62385-0
    481816 Inheritest High Frequency 481807 Additional ClinicalInformation 55752-0
    481816 Inheritest High Frequency 481808 Comments 8251-1
    481816 Inheritest High Frequency 481809 Methods/Limitations 49549-9
    481816 Inheritest High Frequency 481810 References 75608-0
    481816 Inheritest High Frequency 481811 Disorders Tested 19102-3
    481816 Inheritest High Frequency 481812 Director Review/Release 72486-4
    481816 Inheritest High Frequency 481813 PDF 51969-4
    481816 Inheritest High Frequency 481815 Patient Gender 76691-5
    Reflex Table for Patient Gender
    Order Code Order Name Result Code Result Name UofM Result LOINC
    Reflex 1 482132 High Freq/Guideline + FragileX 482130 High Freq/Guideline NGSBC N/A
    Reflex Table for Patient Gender
    Order Code Order Name Result Code Result Name UofM Result LOINC
    Reflex 1 482132 High Freq/Guideline + FragileX 482131 FRAXBC N/A
    Reflex Table for Patient Gender
    Order Code Order Name Result Code Result Name UofM Result LOINC
    Reflex 1 482133 High Freq/Guideline NGSBC 482133 High Freq/Guideline NGSBC N/A

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    CPT Statement/Profile Statement

    The LOINC® codes are copyright © 1994-2021, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf