Clinical and research tests for 84816 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Nuclear Mitochondrial Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	221	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	12	221	D Deletion/duplication analysis S Mutation scanning of the entire coding region E Sequence analysis of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
RTN4IP1 - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732, Autosomal recessive; OPA10 (Autosomal recessive isolated optic atrophy) (RTN4IP1 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
Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732, Autosomal recessive; OPA10 (Autosomal recessive isolated optic atrophy) (RTN4IP1 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
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
Optic Atrophy 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
Ataxia Exome Genetic Services Laboratory University of Chicago United States	289	481	C Sequence analysis of the entire coding region
Optic Atrophy and Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	96	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Genomic Unity® Retinal Disorders Analysis Variantyx, Inc. United States	1	394	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Retinal Dystrophy Panel CGC Genetics Unilabs Portugal	1	306	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.