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Results: 21 to 40 of 69

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome NGS panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Comprehensive panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome NGS panel - Dominant & Recessive

HNL Genomics Connective Tissue Gene Tests
United States
1420
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive

HNL Genomics Connective Tissue Gene Tests
United States
812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Ehlers-Danlos Syndrome Panel

Invitae
United States
3817
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Myopathy Panel

Invitae
United States
14370
  • D Deletion/duplication analysis

Invitae Congenital Myopathy Panel

Invitae
United States
5836
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos syndrome panel. 32-gene NGS panel.

Genologica Medica
Spain
8532
  • C Sequence analysis of the entire coding region

Aortic disease panel. 41-gene NGS panel.

Genologica Medica
Spain
9441
  • C Sequence analysis of the entire coding region

FKBP14 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Ehlers Danlos Syndrome Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
3114
  • C Sequence analysis of the entire coding region

Connective Tissue Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11245
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 69

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.