Clinical and research tests for C3810012 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TGFB3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Marfan Syndrome and Related Aortopathies Panel PreventionGenetics, part of Exact Sciences United States	40	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Marfan syndrome and Loeys-Dietz syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Loeys-Dietz syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Marfan syndrome and Loeys-Dietz syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	6	6	D Deletion/duplication analysis 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 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
Marfan syndrome and Loeys-Dietz syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	6	6	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
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
Loeys-Dietz syndrome 5, 615582, Autosomal dominant; LDS5 (Familial thoracic aortic aneurysm and aortic dissection) (TGFB3 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Loeys-Dietz syndrome 5, 615582, Autosomal dominant; LDS5 (Familial thoracic aortic aneurysm and aortic dissection) (TGFB3 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft Lip/Cleft Palate Panel PreventionGenetics, part of Exact Sciences United States	177	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.