Clinical and research tests for C2750079 - 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
TSPAN12 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	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
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
Exudative vitreoretinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Exudative vitreoretinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	6	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Exudative vitreoretinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Exudative vitreoretinopathy 5, 613310, Autosomal dominant; EVR5 (Familial exudative vitreoretinopathy) (TSPAN12 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
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
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
Exudative vitreoretinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	6	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Exudative vitreoretinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Exudative vitreoretinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	6	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Familial Exudative Vitreoretinopathy 5 (FEVR5) via the TSPAN12 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Exudative vitreoretinopathy 5 (sequence analysis of TSPAN12 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Retinal dystrophy panel. 260 gene NGS panel. Genologica Medica Spain	420	257	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.