Clinical and research tests for C0268363 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	345	159	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bone Fragility and Fracture Panel PreventionGenetics, part of Exact Sciences United States	87	74	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis Imperfecta Panel PreventionGenetics, part of Exact Sciences United States	33	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	52	53	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta, types I, II, III & IV NGS Test A HNL Genomics Connective Tissue Gene Tests United States	4	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test B HNL Genomics Connective Tissue Gene Tests United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta, types I, II, III & IV Comprehensive Test A HNL Genomics Connective Tissue Gene Tests United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta, types I, II, III & IV NGS Test B HNL Genomics Connective Tissue Gene Tests United States	4	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	30	24	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta core NGS panel HNL Genomics Connective Tissue Gene Tests United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta NGS panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	9	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core & extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	46	29	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States	21	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core & extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	46	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	5	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.