Clinical and research tests for C3809513 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FBN1 gene sequence and deletion/duplication reflex to TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	18	27	C Sequence analysis of the entire coding region T Targeted variant analysis
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	18	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	18	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thoracic Aortic Aneurysm and Dissection (TAAD) via the PRKG1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Panel PreventionGenetics, part of Exact Sciences United States	16	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Aortopathy Comprehensive Panel Invitae United States	60	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial thoracic aortic aneurysm 8 (sequence analysis of PRKG1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Connective tissue / Aortopathies panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	35	35	C Sequence analysis of the entire coding region
PRKG1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Aortic aneurysm, familial thoracic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	9	9	C Sequence analysis of the entire coding region
Thoracic Aortic Aneurysm and Aortic Dissection, Sequencing PRKG1 Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
Connective Tissue Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	44	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	14	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	14	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arterial Aneurysm Panel Collagen Diagnostic Laboratory University Of Washington United States	16	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm CeGaT GmbH Germany	38	44	C Sequence analysis of the entire coding region
Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm CeGaT GmbH Germany	38	44	C Sequence analysis of the entire coding region
ADAMTS10 mutational analysis Connective Tissue Laboratory Ghent University Hospital Belgium	10	1	E Sequence analysis of select exons

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.