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GeneSeq® Cardio: Familial Congenital Heart Disease Panel

Test Number 482318
Test number copied
CPT

81405; 81406; 81407(x3); 81479
Synonyms
  • Atrial septal defects
  • CHARGE syndrome

Test Details

Methodology

Next Generation Sequencing: Identifies genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).

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 review the literature below.

Consent for genetic testing

GenSeq®: Cardio brochure

General Cardiology NGS Clinical Questionnaire

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.

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.

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.

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 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 Instructions

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.

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

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

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
482318 Congenital Heart Disease Panel 482301 Genes 48018-6
482318 Congenital Heart Disease Panel 482302 Ethnicity 42784-9
482318 Congenital Heart Disease Panel 482303 Specimen Type 31208-2
482318 Congenital Heart Disease Panel 482304 Genetic Counselor 89993-0
482318 Congenital Heart Disease Panel 482305 Indication 42349-1
482318 Congenital Heart Disease Panel 482306 Result: 48003-8
482318 Congenital Heart Disease Panel 482307 Interpretation 53039-4
482318 Congenital Heart Disease Panel 482308 General Comments 77202-0
482318 Congenital Heart Disease Panel 482309 Recommendations 62385-0
482318 Congenital Heart Disease Panel 482310 Additional ClinicalInformation 55752-0
482318 Congenital Heart Disease Panel 482311 Comments 8251-1
482318 Congenital Heart Disease Panel 482312 Methods/Limitations 49549-9
482318 Congenital Heart Disease Panel 482313 References 75608-0
482318 Congenital Heart Disease Panel 482314 Genes Analyzed 48018-6
482318 Congenital Heart Disease Panel 482315 Director Review/Release 72486-4
482318 Congenital Heart Disease Panel 482316 PDF 51969-4
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482301
Result Code NameGenes
UofM
Result LOINC48018-6
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482302
Result Code NameEthnicity
UofM
Result LOINC42784-9
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482303
Result Code NameSpecimen Type
UofM
Result LOINC31208-2
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482304
Result Code NameGenetic Counselor
UofM
Result LOINC89993-0
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482305
Result Code NameIndication
UofM
Result LOINC42349-1
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482306
Result Code NameResult:
UofM
Result LOINC48003-8
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482307
Result Code NameInterpretation
UofM
Result LOINC53039-4
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482308
Result Code NameGeneral Comments
UofM
Result LOINC77202-0
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482309
Result Code NameRecommendations
UofM
Result LOINC62385-0
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482310
Result Code NameAdditional ClinicalInformation
UofM
Result LOINC55752-0
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482311
Result Code NameComments
UofM
Result LOINC8251-1
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482312
Result Code NameMethods/Limitations
UofM
Result LOINC49549-9
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482313
Result Code NameReferences
UofM
Result LOINC75608-0
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482314
Result Code NameGenes Analyzed
UofM
Result LOINC48018-6
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482315
Result Code NameDirector Review/Release
UofM
Result LOINC72486-4
Order Code482318
Order Code NameCongenital Heart Disease Panel
Order Loinc
Result Code482316
Result Code NamePDF
UofM
Result LOINC51969-4