Clinical and research tests for 516040 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ARMS2 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial genome panel Centogene AG - the Rare Disease Company Germany	1	37	C Sequence analysis of the entire coding region
MT-CO2 Gene Cytochrome c oxidase 2 deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	48	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial DNA-Associated Leigh Syndrome and NARP Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	26	T Targeted variant analysis
Genomic Unity® Hearing Loss Disorders Analysis Variantyx, Inc. United States	1	318	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Mitochondrial Full Genome Analysis Mayo Clinic Laboratories Mayo Clinic United States	29	37	C Sequence analysis of the entire coding region
Congenital Lactic Acidosis Panel Mayo Clinic Laboratories Mayo Clinic United States	1	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmito - Mitochondrial Genome Sequencing PreventionGenetics, part of Exact Sciences United States	16	38	C Sequence analysis of the entire coding region
Neuropathy, Ataxia and Retinis pigmentosa (NARP) : T8993G mutation study Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	1	26	T Targeted variant analysis
Myoclonic epilepsy with ragged-red fibers(MERRF), Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), LEIGH, Neuropathy,Ataxia and retinis pigmentosa(NARP) mutations study Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	4	27	T Targeted variant analysis
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
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Mitochondrial Diseases Panel (Nuclear and Mitochondrial DNA) Mendelics Brazil	1	169	C Sequence analysis of the entire coding region
Mitochondrial Disorders Panel Dhiti Omics Technologies Private Ltd India	28	37	C Sequence analysis of the entire coding region
Rapid MitoGenome Seq + Del Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	1	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoGenome Seq + Del Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	1	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maternal MitoGenome Seq + Del Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	1	37	C Sequence analysis of the entire coding region
mtDNA Targeted Analysis: Known Familial Mutation Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	34	T Targeted variant analysis
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	34	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.