Clinical and research tests for 6295 - 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
SAG - 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
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
Invitae Congenital Stationary Night Blindness Panel Labcorp Genetics (formerly Invitae) LabCorp United States	36	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinitis pigmentosa 47, 613758; RP47 (Retinitis pigmentosa) (SAG 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
Oguchi disease-1, 258100, Autosomal recessive (Oguchi disease) (SAG gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Oguchi disease-1, 258100, Autosomal recessive (Oguchi disease) (SAG 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 Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Retinitis Pigmentosa, autosomal recessive and X-linked Amplexa Genetics Amplexa Genetics A/S Denmark	2	65	S Mutation scanning of the entire coding region
Congenital Stationary Night Blindness Amplexa Genetics Amplexa Genetics A/S Denmark	1	15	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
Congenital Stationary Night Blindness Panel PreventionGenetics, part of Exact Sciences United States	18	17	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
Autosomal Recessive Retinitis Pigmentosa (RP) Panel PreventionGenetics, part of Exact Sciences United States	62	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Oguchi Disease and Retinitis Pigmentosa (RP47) via the SAG Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
SAG Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
SAG Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SAG Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	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.