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Results: 1 to 20 of 85 (representing 35 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

Ehlers-Danlos syndrome, type IV (EDS IV) - Deletion/Duplication

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

Ehlers-Danlos syndrome, type IV (EDS IV) - Sanger Sequencing

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

Ehlers-Danlos syndrome type IV

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

Ehlers-Danlos syndrome type IV

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

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

Aortic Valvular Diseases Panel

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

Ehlers-Danlos Syndrome Sequencing Panel

PreventionGenetics
United States
1818
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COL3A1. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

COL3A1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

COL3A1, COL5A1, COL5A2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
33
  • C Sequence analysis of the entire coding region

Low Bone Mass Panel (MitomeNGS)

Baylor Miraca Genetics Laboratories
United States
3922
  • C Sequence analysis of the entire coding region

Marfan Syndrome and Related Aortopathies Sequencing Panel

PreventionGenetics
United States
2322
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COL3A1 Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis

COL3A1 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

Ehlers-Danlos Syndrome, Type IV via the COL3A1 Gene

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

Results: 1 to 20 of 85

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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