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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Aortopathy Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
5448
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebrovascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan and Related Conditions Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3730
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Custom Heritable Disorders of Connective Tissue Panel

GeneDx
United States
4270
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rest of Heritable Disorders of Connective Tissue after Marfan/TAAD Sequencing and Del/Dup Panel

GeneDx
United States
1531
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Custom Cardiology Sequencing and Del/Dup Panel

GeneDx
United States
30270
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Loeys-Dietz syndrome

Institute of Human Genetics Cologne University
Germany
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Loeys-Dietz syndrome - familial variant analysis

CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
Canada
16
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Loeys-Dietz syndrome - full panel

CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario
Canada
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome, EDS and other connective tissue disorders - different panels

Institute of Human Genetics Cologne University
Germany
1047
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan Syndrome Panel

Blueprint Genetics
Finland
630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NGS panel - Aortic or arterial dilatation / dissection

Amsterdam UMC Genome Diagnostics Amsterdam 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

Amsterdam UMC Genome Diagnostics Amsterdam 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

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

TGFBR1 Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan Syndrome and Loeys-Dietz Syndrome Panel

Collagen Diagnostic Laboratory University Of Washington
United States
36
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arterial Aneurysm Panel

Collagen Diagnostic Laboratory University Of Washington
United States
1623
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aortopathy Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Loeys-Dietz Syndrome (TGFßR1, TGFßR2, SMAD3, and TGFß2)

Center for Human Genetics, Inc
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Thoracic Aortic Aneurysms and Aortic Dissections (TGFBR1/2)

Center for Human Genetics, Inc
United States
12
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.