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Results: 1 to 20 of 91 (representing 34 labs)

Tests names and labsConditionsGenes and analytesMethods

Marfan, Loeys-Dietz syndrome and related disorders panel

Centogene AG - the Rare Disease Company
Germany
1715
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome, type II - Sanger / Del Dup Comprehensive

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

Loeys-Dietz syndrome 2 - 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 3 - Sanger / Del Dup Comprehensive

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

Marfan syndrome, type II (MFS2) - Deletion/Duplication

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

Loeys-Dietz syndrome 2 (LDS2) - Deletion/Duplication

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

Aortic aneurysm, familial thoracic 3 (AAT3) - Deletion/Duplication

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

Marfan syndrome, type II (MFS2) - Sanger Sequencing

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

Loeys-Dietz syndrome 2 (LDS2) - Sanger Sequencing

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

Aortic aneurysm, familial thoracic 3 (AAT3) - Sanger Sequencing

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

Loeys-Dietz syndrome type 2B

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

Loeys-Dietz syndrome type 1B

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

Aortic diseases Panel

Health in Code S.L.
Spain
7135
  • C Sequence analysis of the entire coding region

Loeys-Dietz Syndrome Sequencing Panel

PreventionGenetics
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TGFBR2, SMAD3, TGFBR1, TGFB2. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
24
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

Health in Code S.L.
Spain
6030
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2014
  • 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

Loeys Dietz syndrome

Human Genetics University Hospital Bern
Switzerland
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniofacial Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2727
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 91

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.

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