Clinical and research tests for C1970458 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 49

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Osteogenesis imperfecta Deletion / Duplication panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	23	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis imperfecta Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	30	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ehlers-Danlos Syndrome Panel Invitae United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta and Hypophosphatasia (HPP) Panel PreventionGenetics, part of Exact Sciences United States	37	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
Osteogenesis Imperfecta via the P3H1 / LEPRE1 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Low Bone Mass Panel (MitomeNGS) Baylor Genetics United States	39	22	C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Osteogenesis Imperfecta Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	28	19	C Sequence analysis of the entire coding region
P3H1 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Osteogenesis imperfecta panel. 28-gene NGS panel. Genologica Medica Spain	48	27	C Sequence analysis of the entire coding region
Skeletal disease dysplasia panel with abnormal mineralization. 32-gene NGS panel. Genologica Medica Spain	60	32	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta and Low Bone Density Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	34	26	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta Panel, Recessive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	18	10	C Sequence analysis of the entire coding region
Osteogenesis imperfecta, autosomal recessive Institute of Human Genetics Cologne University Germany	12	12	C Sequence analysis of the entire coding region
Osteogenesis imperfecta: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	18	17	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 49

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.