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Results: 1 to 20 of 37 (representing 16 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital heart defects panel

Centogene AG - the Rare Disease Company
Germany
2612
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Aortic valve disease 1 - Sanger / Del Dup Comprehensive

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

Aortic valve disease 1 (AOVD1) - Deletion/Duplication

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

Aortic valve disease 1 (AOVD1) - Sanger Sequencing

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

Aortic valve disease type 1

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

NOTCH1. Complete sequencing

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

Connective Tissue Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
14783
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2736
  • D Deletion/duplication analysis

Connective Tissue Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2736
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
2935
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease not including Ciliopathies Panel

Invitae
United States
6640
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel - Aortic or arterial dilatation / dissection

Genome Diagnostics VU University Medical Center
Netherlands
1121
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

NGS panel- Aortic or arterial dilatation/dissection + COL5A1

Genome Diagnostics VU University Medical Center
Netherlands
1422
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA

Genome Diagnostics VU University Medical Center
Netherlands
1423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel- Aortic or arterial dilatation/dissection

Genome Diagnostics VU University Medical Center
Netherlands
1421
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders 22-gene panel

Center for Human Genetics
United States
1822
  • C Sequence analysis of the entire coding region

Invitae Congenital Heart Disease including Ciliopathies Panel

Invitae
United States
10272
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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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