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Results: 1 to 20 of 58

Tests names and labsConditionsGenes and analytesMethods

Aortic aneurysm, familial thoracic 4 - Sanger / Del Dup Comprehensive

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

Aortic aneurysm, familial thoracic 4 (AAT4) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Aortic aneurysm, familial thoracic 4 (AAT4) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Aortic diseases Panel

Health in Code S.L.
Spain
7235
  • C Sequence analysis of the entire coding region

MYLK. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code S.L.
Spain
6130
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
1814
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) Panel

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
1510
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SMAD3. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

TGFBR1. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

ACTA2. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

TGFBR2. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

MYH11. Complete sequencing

Instituto de Medicina Genomica
Spain
31
  • C Sequence analysis of the entire coding region

Marfan Syndrome and Related Aortopathies NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
1614
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Thoracic Aortic Aneurysm and Dissection (TAAD) via the MYH11 gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Aortopathy Deletion/Duplication, 21 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
2021
  • D Deletion/duplication analysis

Aortopathy Sequencing, 21 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
1920
  • C Sequence analysis of the entire coding region

Aortopathy Panel, Sequencing and Deletion/Duplication, 21 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
2021
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome and related disorders

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1011
  • C Sequence analysis of the entire coding region

MYH11 - Gene sequencing

Genome Diagnostics VU University Medical Center
Netherlands
11
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Results: 1 to 20 of 58

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.