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Results: 21 to 40 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

Low Bone Mass Panel (MitomeNGS)

Baylor Genetics
United States
3922
  • C Sequence analysis of the entire coding region

COL1A1/2 Related Disorders Panel (MitomeNGS)

Baylor Genetics
United States
92
  • 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

Osteogenesis imperfecta panel. 28-gene NGS panel.

Genologica Medica
Spain
4827
  • C Sequence analysis of the entire coding region

Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel.

Genologica Medica
Spain
6032
  • C Sequence analysis of the entire coding region

Osteoporosis and bone dysplasia panel. 25-gene NGS panel.

Genologica Medica
Spain
5625
  • C Sequence analysis of the entire coding region

Marfan syndrome panel. 30-gene NGS panel.

Genologica Medica
Spain
7130
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

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

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Caffey disease: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

COL1A1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
81
  • 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

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

COL1A1

Institute for Human Genetics University Medical Center Freiburg
Germany
81
  • C Sequence analysis of the entire coding region

Caffey Disease (COL1A1 Single Gene Test)

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

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

Results: 21 to 40 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.