Clinical and research tests for C1835437 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Platyspondylic lethal skeletal dysplasia, Torrance type HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Platyspondylic lethal skeletal dysplasia, Torrance type 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
Platyspondylic lethal skeletal dysplasia, Torrance type 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
Skeletal dysplasia core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	10	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
Skeletal dysplasia core NGS panel HNL Genomics Connective Tissue Gene Tests United States	21	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core & extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	46	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Skeletal dysplasia core & extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	46	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL2A1-Related Disorders via the COL2A1 Gene PreventionGenetics, part of Exact Sciences United States	15	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	10	1	T Targeted variant analysis
COL2A1 Sequence Analysis Baylor Genetics United States	10	1	C Sequence analysis of the entire coding region
COL2A1 Deletion/Duplication Analysis Baylor Genetics United States	10	1	D Deletion/duplication analysis
COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis) Baylor Genetics United States	10	1	D Deletion/duplication analysis
COL2A1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	10	1	T Targeted variant analysis
Stickler Syndrome Panel PreventionGenetics, part of Exact Sciences United States	30	12	D Deletion/duplication analysis 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.