Clinical and research tests for C0029434 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive Aortopathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	54	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	28	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OI and Bone Fragility Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 Comprehensive panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	23	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta NGS panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	23	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis imperfecta Deletion / Duplication 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
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
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Genetic Test for osteogenesis imperfecta - COL1A2 CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	1	D Deletion/duplication analysis
Genetic Test for osteogenesis imperfecta - COL1A2 CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	1	C Sequence analysis of the entire coding region
Genetic Test for osteogenesis imperfecta CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	1	D Deletion/duplication analysis
Genetic Test for osteogenesis imperfecta CGPP - Center for Predictive and Preventive Genetics IBMC - Institute for Cell and Molecular Biology Portugal	1	1	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

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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.