GeneSeq® Cardio: Familial Congenital Heart Disease Panel

TEST: 482318
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CPT: 81405; 81406; 81407(x3); 81479
Updated on 12/24/2024
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Synonyms

  • Atrial septal defects
  • CHARGE syndrome

Test Includes

This test includes the following genes: CHD7, ELN, FOXH1, GATA4, GATA6, GDF1, HAND1, JAG1, NKX2-5, NKX2-6, NOTCH1, NR2F2, SMAD6, TBX1, TBX5, TBX20 and ZFPM2.

Special Instructions

In cases in which there is a known variant documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208].

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

In cases in which there is a known variant documented in the family, the physician may prefer to order Targeted Variant Analysis [482552].

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

In cases in which there is a known variant documented in the family, the physician may prefer to order GeneSeq® Cardio Targeted Variant Analysis [485208].

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 review the literature below.

Consent for genetic testing

GenSeq®: Cardio brochure

General Cardiology NGS Clinical Questionnaire

    Specimen Requirements

    Specimen

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

    Volume

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

    Minimum Volume

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

    Container

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

    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.

    Storage Instructions

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

    Stability Requirements

    Whole blood: 14 days at room temperature or 30 days at 4°C

    Buccal: 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

    Test Details

    Use

    This test is used for diagnostic testing for congenital heart disease, including atrial septal defects and CHARGE syndrome. It also is used for presymptomatic testing for family members.

    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).

    References

    Hershberger RE, Givertz, Ho CY et al. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Sep;20(9):899-909.29904160
    Musunuru K, Hershberger RE, Day SM et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020 Aug;13(4):e000067.32698598

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