U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 79

Tests names and labsConditionsGenes, analytes, and microbesMethods

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ACTA2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • 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, 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, 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

Aortic aneurysm, familial thoracic 6, 611788, Autosomal dominant; AAT6 (Familial thoracic aortic aneurysm and aortic dissection) (ACTA2 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

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

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aortic aneurysm, familial thoracic 6 Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aortic aneurysm, familial thoracic 6 Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aortic aneurysm, familial thoracic 6 Sequencing Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 79

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.