Clinical and research tests for 4512 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Mitochondrial genome panel Centogene AG - the Rare Disease Company Germany	1	37	C Sequence analysis of the entire coding region
MT-CO1 Gene Cytochrome c oxidase 1 deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
OtoSCOPE v9 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	287	218	D Deletion/duplication analysis C Sequence analysis 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
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
Leber optic atrophy panel Amplexa Genetics Amplexa Genetics A/S Denmark	1	8	S Mutation scanning of the entire coding region
Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States	218	300	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
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Neuromuscular diseases panel_v.2.0 CGC Genetics Unilabs Portugal	17	248	C Sequence analysis of the entire coding region
Deafness or hypoacusis panel_v.2.0 CGC Genetics Unilabs Portugal	1	272	C Sequence analysis of the entire coding region
Leber optic atrophy (sequence analysis of MTCO1 gene) CGC Genetics Unilabs Portugal	1	1	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

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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.