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Test ID: CHDGG Congenital Heart Disease Gene Panel, Varies


Ordering Guidance


Chromosomal microarray is often used as a first-tier test in the setting of congenital heart disease. If chromosomal microarray testing is desired, order either CMACB / Chromosomal Microarray, Congenital, Blood or CMAP / Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling.

 

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

 

Targeted testing for familial variants (also called site-specific or known mutations testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.



Additional Testing Requirements


All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen as this must be a different order number than the prenatal specimen.



Shipping Instructions


Specimen preferred to arrive within 96 hours of collection.



Necessary Information


Prior Authorization is available, but not required, for this test. If proceeding with the prior authorization process, submit the required form with the specimen.



Specimen Required


Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. For instructions for testing patients who have received a bone marrow transplant, call 800-533-1710.

 

Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA) or yellow top (ACD)

Acceptable: Any anticoagulant

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Due to its complexity, consultation with the laboratory is required for all prenatal testing; call 800-533-1710 to speak to a genetic counselor.

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional information:

1. If amniotic fluid or nonconfluent cultures are received, CULAF / Culture for Genetic Testing, Amniotic Fluid will be added at an additional charge.

2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

Additional Information:

1. If nonconfluent cultures are received, CULFB / Fibroblast Culture for Biochemical or Molecular Testing will be added at an additional charge.

2. All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

 

Acceptable:

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Additional Information: All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing (Spanish) (T826)

2. Congenital Heart Disease Genetic Testing Patient Information

3. Congenital Heart Disease Gene Panel (CHDGG) Prior Authorization Ordering Instructions

4. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.

Useful For

Providing a genetic evaluation for patients with a personal or family history of congenital heart disease

 

Establishing a diagnosis of a genetic condition associated with congenital heart disease

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

For prenatal specimens only:

-If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added at an additional charge.

-If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture will be added at an additional charge.

For any prenatal specimen that is received, maternal cell contamination testing will be performed at an additional charge.

Method Name

Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing

Reporting Name

Congenital Heart Disease Gene Panel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL; Other specimen types: See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Congenital heart disease/defects (CHD/CHD) is a general term used to describe one or more problems with the heart’s structure that exist at birth. CHD represent the most common birth defects in humans, with approximately 1% of births affected. CHD may involve one or more structures of the heart, including chambers, valves, arteries and veins, and may be isolated (nonsyndromic) or part of a systemic condition involving additional congenital anomalies (syndromic).

 

In the absence of an identifiable environmental or teratogenic cause, most CHD are considered multifactorial and do not have a genetic cause identified. However, it is estimated that a genetic etiology can be determined in around 20% to 30% of CHD cases, with increased likelihood of diagnostic findings in individuals with extracardiac anomalies and/or dysmorphic features. When an underlying genetic cause is detected, it is most often due to chromosomal copy-number variants, followed by aneuploidy, then single-gene variants.(1) For this reason, chromosomal microarray analysis is often used as the first-tier test for individuals with CHD, followed by single- or multi-gene panel analysis, depending on the cardiac lesion, presence or absence of extra-cardiac features, and family history.

 

This panel includes genes associated with both isolated CHD as well as syndromic conditions commonly involving CHD, such as Noonan syndrome and related disorders, CHARGE syndrome (coloboma, heart defects, atresia choanae [also known as choanal atresia], growth retardation, genital abnormalities, and ear abnormalities), Holt-Oram syndrome, and Alagille syndrome.

 

Confirmation of the genetic cause of CHD may inform further screening or surveillance strategies, as well as genetic counseling for the family.

Reference Values

An interpretive report will be provided

Interpretation

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations.(2) Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.

Clinical Reference

1. Ison HE, Griffin EL, Parrott A, et al: Genetic counseling for congenital heart disease-Practice resource of the National Society of Genetic Counselors. J Genet Couns. 2022 Feb;31(1):9-33

2. Richards S, Aziz N, Bale S, et al: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May;17(5):405-424

Day(s) Performed

Varies

Report Available

28 to 42 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81404

81405 x 3

81406 x 6

81407 x 3

81408

81479

81479 (if appropriate for government payers)

81265-Maternal cell contamination (if appropriate)

88233-Tissue culture, skin, solid tissue biopsy (if appropriate)

88235-Amniotic Fluid culture (if appropriate)

88240-Cryopreservation (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CHDGG Congenital Heart Disease Gene Panel 51966-0

 

Result ID Test Result Name Result LOINC Value
617198 Test Description 62364-5
617199 Specimen 31208-2
617200 Source 31208-2
617201 Result Summary 50397-9
617202 Result 82939-0
617203 Interpretation 69047-9
617204 Additional Results 82939-0
617205 Resources 99622-3
617206 Additional Information 48767-8
617207 Method 85069-3
617208 Genes Analyzed 48018-6
617209 Disclaimer 62364-5
617210 Released By 18771-6