Clinical and research tests for C0432252 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Invitae Cystic Kidney Disease Panel Invitae United States	96	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	50	C Sequence analysis of the entire coding region
Osteoporosis-pseudoglioma syndrome, 259770, Autosomal recessive; OPPG (Osteoporosis-pseudoglioma syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteoporosis-pseudoglioma syndrome, 259770, Autosomal recessive; OPPG (Osteoporosis-pseudoglioma syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Osteoporosis-pseudoglioma syndrome, 259770, Autosomal recessive; OPPG (Osteoporosis-pseudoglioma syndrome) (LRP5 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Osteoporosis-pseudoglioma syndrome, 259770, Autosomal recessive; OPPG (Osteoporosis-pseudoglioma syndrome) (LRP5 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Progressive Renal Disease Panel Invitae United States	310	195	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Osteoporosis-pseudoglioma syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteoporosis-pseudoglioma syndrome NGS test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Osteoporosis-pseudoglioma syndrome Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis 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 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
Vitreoretinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	23	19	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

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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.