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Results: 1 to 20 of 62

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

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

MFAP5 - NGS including CNV analysis

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

Connective Tissue and Related Disorder Panel

Centogene AG - the Rare Disease Company
Germany
7576
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Connective Tissue Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
19592
  • D Deletion/duplication analysis

Marfan Syndrome and Related Aortopathies Panel

PreventionGenetics, part of Exact Sciences
United States
4039
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1827
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1827
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aortic aneurysm, familial thoracic 9, 616166, Autosomal dominant; AAT9 (Familial thoracic aortic aneurysm and aortic dissection) (MFAP5 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Connective tissue disorder Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
3747
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TAADNext®

Ambry Genetics
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FBN1 gene sequence and deletion/duplication reflex to TAADNext®

Ambry Genetics
United States
5035
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1827
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 62

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.