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Results: 1 to 20 of 86

Tests names and labsConditionsGenes, analytes, and microbesMethods

TGFB2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue and Related Disorder Panel

Centogene AG - the Rare Disease Company
Germany
7576
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • 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
4038
  • 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
66
  • 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
55
  • 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
55
  • 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
66
  • 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
1827
  • 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
66
  • 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
55
  • 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
1827
  • 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
1827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Loeys-Dietz syndrome 4, 614816, Autosomal dominant; LDS4 (Familial thoracic aortic aneurysm and aortic dissection) (TGFB2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Loeys-Dietz syndrome 4, 614816, Autosomal dominant; LDS4 (Familial thoracic aortic aneurysm and aortic dissection) (TGFB2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Invitae
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 86

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.