Clinical and research tests for C1855465 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
ABCA4 - 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
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
Fundus flavimaculatus, 248200, Autosomal recessive (Stargardt disease) (ABCA4 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
Fundus flavimaculatus, 248200, Autosomal recessive (Stargardt disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Macular degeneration, juvenile, 248200, Autosomal recessive (Stargardt disease) (CNGB3 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
Retinal dystrophy, early-onset severe, 248200, Autosomal recessive (Stargardt disease) (ABCA4 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
Retinal dystrophy, early-onset severe, 248200, Autosomal recessive (Stargardt disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Stargardt disease 1, 248200, Autosomal recessive; STGD1 (Stargardt disease) (ABCA4 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
Stargardt disease 1, 248200, Autosomal recessive; STGD1 (Stargardt disease) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Inherited Retinal Disorders Panel Invitae United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis 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
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
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
Leber Congenital Amaurosis Panel PreventionGenetics, part of Exact Sciences United States	27	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ABCA4 mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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