Clinical and research tests for C3151192 - 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
CRX - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	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
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 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 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
Leber congenital amaurosis 7, 613829; LCA7 (Leber congenital amaurosis) (CRX 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 7, 613829; LCA7 (Leber congenital amaurosis) (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
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Focused Inherited Retinal Disorders Panel PreventionGenetics, part of Exact Sciences United States	36	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Retinitis Pigmentosa Panel PreventionGenetics, part of Exact Sciences United States	91	82	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
Autosomal Dominant Retinitis Pigmentosa (RP) Panel PreventionGenetics, part of Exact Sciences United States	32	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leber Congential Amaurosis Panel (MitomeNGS) Baylor Genetics United States	32	19	C Sequence analysis of the entire coding region
CRX Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
CRX Sequence Analysis Baylor Genetics United States	2	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.