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Results: 1 to 20 of 136

Tests names and labsConditionsGenes, analytes, and microbesMethods

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

Hyper-IgE Syndrome Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3221
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornGeneID

GeneID Lab - Advanced Molecular Diagnostics
United States
7361
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aortic diseases Panel

Health in Code
Spain
7135
  • C Sequence analysis of the entire coding region

Aortic Valvular Diseases Panel

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

TGFBR2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Early-Onset High Myopia Panel

PreventionGenetics, part of Exact Sciences
United States
285137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
345159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Diarrhea Panel

Invitae
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan Syndrome and Related Aortopathies Panel

PreventionGenetics, part of Exact Sciences
United States
4038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome, type I / II Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome and Loeys-Dietz syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome, type I / II NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Loeys-Dietz syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marfan syndrome and Loeys-Dietz syndrome core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Loeys-Dietz syndrome core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Loeys-Dietz syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
55
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome and Loeys-Dietz syndrome core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
33
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Loeys-Dietz syndrome core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
22
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Marfan syndrome and Loeys-Dietz syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 136

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.