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Results: 41 to 58 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

Osteogenesis Imperfecta and Decreased Bone Density NGS Panel

Fulgent Genetics
United States
11132
  • D Deletion/duplication analysis
  • 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

Skeletal dysplasia with increased bone density Panel

CeGaT GmbH
Germany
2628
  • C Sequence analysis of the entire coding region

Caffey disease, COL1A1, R836C sequencing

Molecular Diagnostics Laboratory Seoul National University Hospital
South Korea
11
  • E Sequence analysis of select exons

COL1A1 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
71
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COL1A1 Single Gene

Fulgent Genetics
United States
81
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome NGS Panel

Fulgent Genetics
United States
9721
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS Panel

Fulgent Genetics
United States
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta NGS Panel

Fulgent Genetics
United States
5714
  • 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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue NGS Panel

Fulgent Genetics
United States
18760
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Amelogenesis Imperfecta NGS Panel

Fulgent Genetics
United States
7531
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Caffey disease

MedGene
Slovakia
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Caffey disease

Praxis fuer Humangenetik Wien
Austria
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Caffey Disease, COL1A1

GGA - Galil Genetic Analysis
Israel
11
  • C Sequence analysis of the entire coding region

Caffey disease

Collagen Diagnostic Laboratory University Of Washington
United States
11
  • T Targeted variant analysis

Results: 41 to 58 of 58

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.