Clinical and research tests for CN293783 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
COL1A2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Invitae United States	195	92	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	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
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	50	C Sequence analysis of the entire coding region
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
Invitae Ehlers-Danlos Syndrome Panel Invitae United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States	120	65	D Deletion/duplication analysis
COL1A2 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	7	1	D Deletion/duplication analysis
COL1A2 gene sequencing Duzen Laboratories Duzen BBAGUAS Turkey	7	1	C Sequence analysis of the entire coding region
COL1A2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	7	1	D Deletion/duplication analysis
COL1A2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Ehlers Danlos Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	31	14	C Sequence analysis of the entire coding region
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	23	12	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta Panel, Dominant CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	10	3	C Sequence analysis of the entire coding region
COL1A2 Institute for Human Genetics University Medical Center Freiburg Germany	7	1	C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	20	20	C Sequence analysis of the entire coding region
Osteogenesis Imperfecta Asper Biogene Asper Biogene LLC Estonia	80	41	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.