Clinical and research tests for C0265283 - 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
FLNB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	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
Invitae Skeletal Disorders Panel Invitae United States	624	349	D Deletion/duplication analysis
Atelosteogenesis, type I, 108720, Autosomal dominant; AO1 (Atelosteogenesis type I) (FLNB 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
Atelosteogenesis, type I, 108720, Autosomal dominant; AO1 (Atelosteogenesis type I) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Atelosteogenesis, type I, 108720, Autosomal dominant; AO1 (Atelosteogenesis type I) (FLNB 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
Atelosteogenesis, type I, 108720, Autosomal dominant; AO1 (Atelosteogenesis type I) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	52	53	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	52	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Atelosteogenesis, type I / III NGS Test HNL Genomics Connective Tissue Gene Tests United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Atelosteogenesis, type I / III Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atelosteogenesis, type I / III Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	26	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal dysplasia core & extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	46	29	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.