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Results: 1 to 20 of 106 (representing 38 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

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pan Cardiomyopathy Sequencing Panel

PreventionGenetics
United States
8882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Sudden Cardiac Arrest Sequencing Panel

PreventionGenetics
United States
6349
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Sequencing Panel

PreventionGenetics
United States
190164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Thoracic Aortic Aneurysm and Dissection (TAAD) Sequencing Panel

PreventionGenetics
United States
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Results: 1 to 20 of 106

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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