Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Osteogenesis Imperfecta via the COL1A2 Gene PreventionGenetics, part of Exact Sciences United States | 6 | 1 |
|
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
|
Low Bone Mass Panel (MitomeNGS) Baylor Genetics United States | 39 | 22 |
|
COL1A1/2 Related Disorders Panel (MitomeNGS) Baylor Genetics United States | 9 | 2 |
|
COL1A2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States | 6 | 1 |
|
COL1A2 Deletion/Duplication Analysis Baylor Genetics United States | 6 | 1 |
|
COL1A2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 6 | 1 |
|
Baylor Genetics United States | 842 | 637 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 7 | 1 |
|
Osteogenesis imperfecta panel. 28-gene NGS panel. Genologica Medica Spain | 48 | 27 |
|
Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel. Genologica Medica Spain | 60 | 32 |
|
Marfan syndrome panel. 30-gene NGS panel. Genologica Medica Spain | 71 | 30 |
|
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
|
Ehlers-Danlos syndrome panel. 32-gene NGS panel. Genologica Medica Spain | 85 | 32 |
|
Aortic disease panel. 41-gene NGS panel. Genologica Medica Spain | 94 | 41 |
|
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
|
Duzen Laboratories Duzen BBAGUAS Turkey | 7 | 1 |
|
COL1A2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 7 | 1 |
|
CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 31 | 14 |
|
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 112 | 45 |
|
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.