Clinical and research tests for C3151087 - Genetic Testing Registry (GTR) - NCBI

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Results: 41 to 60 of 95

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Loeys-Dietz syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Loeys-Dietz syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	5	C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	224	202	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
Loeys-Dietz Syndrome Panel PreventionGenetics, part of Exact Sciences United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Loeys-Dietz Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	17	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Aortopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Loeys-Dietz Syndrome via the SMAD3 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
Loeys-Dietz syndrome type 3 (sequence analysis of SMAD3 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Marfan syndrome panel. 30-gene NGS panel. Genologica Medica Spain	71	30	C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome panel. 32-gene NGS panel. Genologica Medica Spain	85	32	C Sequence analysis of the entire coding region
Aortic disease panel. 41-gene NGS panel. Genologica Medica Spain	94	41	C Sequence analysis of the entire coding region
Preventive 59 Genologica Medica Spain	172	59	C Sequence analysis of the entire coding region
SMAD3 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Aortic Dysfunction/Dilation & Related Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	25	20	C Sequence analysis of the entire coding region
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	C Sequence analysis of the entire coding region
Loeys-Dietz Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	7	4	C Sequence analysis of the entire coding region
Aortic Aneurysm Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	12	7	C Sequence analysis of the entire coding region

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Results: 41 to 60 of 95

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.