Clinical and research tests for C1858084 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cataracts Panel PreventionGenetics, part of Exact Sciences United States	157	171	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Stickler syndrome, type II NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Stickler syndrome, type II 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
Stickler syndrome, type II 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
Stickler syndrome core NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	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
Stickler syndrome core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Stickler syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	8	C Sequence analysis of the entire coding region T Targeted variant analysis
Stickler syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States	79	54	C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Stickler syndrome core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vitreoretinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	23	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vitreoretinopathy Comprehensive panel 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
Stickler syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	79	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft lip, cleft palate and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	19	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	19	17	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.