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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

COL1A2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

LowBoneDensityZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11050
  • 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

Invitae Ehlers-Danlos Syndrome Panel

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

Osteogenesis Imperfecta Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
2819
  • C Sequence analysis of the entire coding region

COL1A2 gene sequencing

Duzen Laboratories Duzen BBAGUAS
Turkey
71
  • C Sequence analysis of the entire coding region

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

Osteogenesis Imperfecta Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
2312
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta Panel, Dominant

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
103
  • C Sequence analysis of the entire coding region

COL1A2

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • C Sequence analysis of the entire coding region

Ehlers-Danlos syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
2020
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta

Asper Biogene Asper Biogene LLC
Estonia
8041
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome

Asper Biogene Asper Biogene LLC
Estonia
6937
  • C Sequence analysis of the entire coding region

Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes

Reference Laboratory Genetics
Spain
4239
  • C Sequence analysis of the entire coding region

Connective Tissue Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
4440
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia

Asper Biogene Asper Biogene LLC
Estonia
16674
  • C Sequence analysis of the entire coding region

Thoracic Aortic Aneurysm Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
6249
  • 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.