GeneSeq: Cardio - Familial Congenital Heart Disease Panel
Clinical Genetic Test
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GTR Test Accession: Help GTR000604223.2
DYSMORPHOLOGYINHERITED DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2023-09-24
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Diagnosis
Atrial septal defect; Arteriohepatic dysplasia; CHARGE association; ...
CHD7 (8q12.2), ELN (7q11.23), FOXH1 (8q24.3), GATA4 (8p23.1), GATA6 (18q11.2), ...
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
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Ordering Information
Offered by: Help
Integrated Genetics Westborough
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Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
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Post-test genetic counseling required: Help
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Recommended fields not provided:
Conditions Help
Total conditions: 8
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 17
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
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Technical Information
Test Comments: Help
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions and deletions. TBX1 excludes chr22:19748428-19748611 in exon 3
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity at 30X coverage is estimated to be >99% for single nucleotide variants, >99% for insertions/deletions less than six base pairs and >96% for insertions/deletions between six and forty-five base pairs
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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