Filters
| Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
|---|---|---|---|
Osteogenesis imperfecta Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States | 30 | 24 |
|
Osteogenesis imperfecta Comprehensive panel - Dominant HNL Genomics Connective Tissue Gene Tests United States | 9 | 7 |
|
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States | 30 | 24 |
|
Cole-Carpenter syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States | 1 | 2 |
|
Cole-Carpenter syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 1 | 2 |
|
Cole-Carpenter syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 1 | 2 |
|
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 120 | 65 |
|
Baylor Genetics United States | 1 | 354 |
|
Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
|
Osteogenesis imperfecta (WES based NGS panel of 26 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 26 |
|
CGC Genetics Unilabs Portugal | 1 | 662 |
|
Cole-Carpenter syndrome type 1 (sequence analysis of P4HB gene) CGC Genetics Unilabs Portugal | 1 | 1 |
|
Mendelics Brazil | 1 | 333 |
|
GeneDx United States | 1 | 29 |
|
Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 34 | 26 |
|
Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
|
Genetics Laboratory University of Oklahoma Health Sciences Center United States | 1 | 29 |
|
Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
|
GeneDx United States | 2 | 2592 |
|
GeneDx United States | 1 | 24 |
|
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.