Clinical and research tests for 7439 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 142

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
BEST1 Gene Bestrophinopathy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Macular Dystrophy Panel Invitae 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
Bestrophinopathy, autosomal recessive, 611809; ARB (Autosomal recessive bestrophinopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Bestrophinopathy, autosomal recessive, 611809; ARB (Autosomal recessive bestrophinopathy) (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
Macular dystrophy, vitelliform, 2, 153700, Autosomal dominant; VMD2 (Best vitelliform macular dystrophy) (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
Macular dystrophy, vitelliform, 2, 153700, Autosomal dominant; VMD2 (Best vitelliform macular dystrophy) (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) (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
Retinitis pigmentosa-50, 613194 (Retinitis pigmentosa) (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
Retinitis pigmentosa, concentric, 613194 (Retinitis pigmentosa) (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
Retinitis pigmentosa-50, 613194 (Retinitis pigmentosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Retinitis pigmentosa, concentric, 613194 (Retinitis pigmentosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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

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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.