Clinical and research tests for C0265253 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	288	218	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cleft lip, cleft palate and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	14	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	3	14	D Deletion/duplication analysis 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
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
PGmax™ - Skeletal Disorders and Joint Problems Panel PreventionGenetics, part of Exact Sciences United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Inherited Retinal Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hearing Loss Test GeneDx United States	56	150	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Stickler Syndrome Sequencing and Del/Dup Panel GeneDx United States	7	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rest of Heritable Disorders of Connective Tissue after Marfan/TAAD Sequencing and Del/Dup Panel GeneDx United States	15	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Custom Cardiology Sequencing and Del/Dup Panel GeneDx United States	30	270	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Stickler Syndrome Panel Blueprint Genetics Finland	1	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Hearing Loss and Deafness Panel Blueprint Genetics Finland	8	179	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Syndromic Hearing Loss Panel Blueprint Genetics Finland	6	86	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NGS panel - Stickler syndrome and related disorders Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	7	8	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis

Results: 1 to 17 of 17

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