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Results: 1 to 20 of 84 (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

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

Connective Tissue Disorders Panel

Laboratory for Molecular Medicine 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 Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
1510
  • D Deletion/duplication analysis
  • 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 Genetics
United States
3922
  • C Sequence analysis of the entire coding region

Marfan Syndrome and Related Aortopathies Sequencing Panel

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

COL3A1 Deletion/Duplication Analysis

Baylor Genetics
United States
21
  • D Deletion/duplication analysis

COL3A1 Sequence Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
21
  • T Targeted variant analysis

COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis

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

MitoMet®Plus aCGH Analysis

Baylor Genetics
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 84

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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