Clinical and research tests for C2931093 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Hypophosphatasia (HPP) and Osteogenesis Imperfecta (OI) Genetic Panel (2 Day STAT TAT) Machaon Diagnostics United States	18	15	C Sequence analysis of the entire coding region
IFITM5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication 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
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	110	50	C Sequence analysis of the entire coding region
Osteogenesis imperfecta, type V, 610967, Autosomal dominant; OI5 (Osteogenesis imperfecta) (IFITM5 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
Osteogenesis imperfecta, type V, 610967, Autosomal dominant; OI5 (Osteogenesis imperfecta) (IFITM5 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
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
Osteogenesis imperfecta, type V 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
Osteogenesis imperfecta, type V 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, type V Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	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
Osteogenesis imperfecta Deletion / Duplication panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	9	7	D Deletion/duplication analysis 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.