Clinical and research tests for C0339510 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Stargardt Disease (STGD) and Macular Dystrophies Panel PreventionGenetics, part of Exact Sciences United States	35	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Vitreoretinopathy Panel PreventionGenetics, part of Exact Sciences United States	26	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cone-Rod Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	37	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Best Vitelliform Macular Dystrophy (BVMD) and Bestrophinopathies via the BEST1 Gene PreventionGenetics, part of Exact Sciences United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
BEST1 Institute of Human Genetics Medical University Innsbruck Austria	3	1	S Mutation scanning of the entire coding region
Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States	563	241	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vitreoretinopathy Asper Biogene Asper Biogene LLC Estonia	55	20	C Sequence analysis of the entire coding region
Macular Degeneration NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	26	24	C Sequence analysis of the entire coding region
Retinitis Pigmentosa NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	103	92	C Sequence analysis of the entire coding region
Eye diseases comprehensive panel Asper Biogene Asper Biogene LLC Estonia	367	291	C Sequence analysis of the entire coding region
CHST6 single gene sequencing Molecular Vision Laboratory United States	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
IMPG1 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinal Dystrophy Panel Molecular Vision Laboratory United States	372	283	C Sequence analysis of the entire coding region
Stargardt Panel Molecular Vision Laboratory United States	28	13	C Sequence analysis of the entire coding region
Comprehensive Eye Disorders NGS Panel Fulgent Genetics United States	1018	459	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vitelliform Macular Dystrophy Asper Biogene Asper Biogene LLC Estonia	2	3	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.