Congenital heart defects: Full gene sequencing panel
GTR Test Accession: Help GTR000596870.1
INHERITED DISEASEDYSMORPHOLOGYCARDIOVASCULAR ... View more
Last updated in GTR: 2021-11-17
Last annual review date for the lab: 2023-12-05 LinkOut
At a Glance
Diagnosis; Risk Assessment; Mutation Confirmation
Congenital heart defects and ectodermal dysplasia; Congenital heart defects and skeletal malformations syndrome; Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder; ...
ABL1 (9q34.12), CDK13 (7p14.1), FLT4 (5q35.3), GATA5 (20q13.33), GDF1 (19p13.11), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Not provided
Not provided
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Ordering Information
Offered by: Help
CEN4GEN Institute for Genomics and Molecular Diagnostics
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 10
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The analytical validity for this analysis is 99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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