Clinical and research tests for 193220 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220, Autosomal dominant; RP50 (MRCS syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220, Autosomal dominant; RP50 (MRCS syndrome) (BEST1 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
Vitreoretinochoroidopathy, 193220, Autosomal dominant; VRCP (Autosomal dominant vitreoretinochoroidopathy) (BEST1 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
Vitreoretinochoroidopathy, 193220, Autosomal dominant; VRCP (Autosomal dominant vitreoretinochoroidopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
BEST1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Macular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	66	36	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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
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
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
BEST1 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	1	C Sequence analysis of the entire coding region
BEST1 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	5	1	T Targeted variant analysis
BEST1 Sequence Analysis Baylor Genetics United States	5	1	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.