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Results: 1 to 15 of 15

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

Invitae Connective Tissue Disorders Panel

Invitae
United States
19592
  • D Deletion/duplication 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 Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

COL1A2 MLPA

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • D Deletion/duplication analysis

Combined osteogenesis imperfecta and Ehlers-Danlos syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • 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

COL1A2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
71
  • D Deletion/duplication analysis

COL1A2

Institute for Human Genetics University Medical Center Freiburg
Germany
71
  • 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

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

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

Results: 1 to 15 of 15

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.