Clinical and research tests for 5961 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 132

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Macular dystrophy, patterned, 1, 169150, Autosomal dominant; MDPT1 (Butterfly-shaped pigment dystrophy) (PRPH2 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, 3, 608161, Autosomal dominant; VMD3 (Adult-onset foveomacular vitelliform dystrophy) (PRPH2 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
Leber congenital amaurosis 18, 608133, Autosomal recessive, Autosomal dominant (Retinitis pigmentosa) (PRPH2 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, 3, 608161, Autosomal dominant; VMD3 (Adult-onset foveomacular vitelliform dystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Retinitis punctata albescens, 136880, Autosomal recessive, Autosomal dominant (Fundus albipunctatus) (PRPH2 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 7 and digenic, 608133, Autosomal recessive, Autosomal dominant; RP7 (Retinitis pigmentosa) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Retinitis punctata albescens, 136880, Autosomal recessive, Autosomal dominant (Fundus albipunctatus) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Retinitis pigmentosa 7 and digenic, 608133, Autosomal recessive, Autosomal dominant; RP7 (Retinitis pigmentosa) (PRPH2 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
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cone-rod and cone dystrophy panel Amplexa Genetics Amplexa Genetics A/S Denmark	1	30	S Mutation scanning of the entire coding region
Retinitis Pigmentosa, autosomal dominant and X-linked Amplexa Genetics Amplexa Genetics A/S Denmark	2	30	S Mutation scanning of the entire coding region
Cone Rod Dystrophies Amplexa Genetics Amplexa Genetics A/S Denmark	1	40	S Mutation scanning of the entire coding region
Leber Congenital Amaurosis Amplexa Genetics Amplexa Genetics A/S Denmark	1	22	S Mutation scanning of the entire coding region
Stargardt Disease and Macular Dystrophies Amplexa Genetics Amplexa Genetics A/S Denmark	2	23	S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Leber congenital amaurosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	32	C Sequence analysis of the entire coding region T Targeted variant analysis
Leber congenital amaurosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Leber congenital amaurosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Flecked Retina Disorder Panel PreventionGenetics, part of Exact Sciences United States	11	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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