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

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Comprehensive mitochondrial disorders panel Centogene AG - the Rare Disease Company Germany	1	181	C Sequence analysis of the entire coding region
Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	47	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial DNA Deletion Syndromes Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	1	D Deletion/duplication analysis
IriSight™ for Pregnancy Loss Variantyx, Inc. United States	4	2	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
IriSightTM Prenatal Analysis - Proband (includes STR analysis of 4 loci) Variantyx, Inc. United States	1	2	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
PGmito - Mitochondrial Genome Sequencing PreventionGenetics United States	16	38	C Sequence analysis of the entire coding region
Genomic Unity Mitochondrial Genome Analysis Variantyx, Inc. United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity Whole Genome Analysis (includes STR analysis of 26 loci) - Proband Variantyx, Inc. United States	1	2	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Genomic UnityⓇ Comprehensive Mitochondrial Disorders Analysis Variantyx, Inc. United States	1	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity Exome Plus Analysis (includes STR analysis of 26 loci) - Proband Variantyx, Inc. United States	1	2	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Comprehensive Mitochondrial Mutation Detection Baylor Genetics United States	1	1	X Mutation scanning of select exons
Genomic Unity Whole Genome Analysis (includes STR analysis of 26 loci) - Comparator Variantyx, Inc. United States	1	2	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Genomic Unity Exome Plus Analysis (includes STR analysis of 26 loci) - Comparator Variantyx, Inc. United States	1	2	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Mitochondrial DNA Deletion Analysis (KS, PEARSON, PEO) Duzen Laboratories Duzen BBAGUAS Turkey	3	1	D Deletion/duplication analysis
Mitochondrial Genome Analysis (mtDNA) Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
Progressive external ophthalmoplegia (CPEO, 4977bp deletion in mtDNA) CGC Genetics Portugal	1	1	D Deletion/duplication analysis
Kearns-Sayre syndrome (KSS, 4977bp deletion in mtDNA) CGC Genetics Portugal	1	1	D Deletion/duplication analysis
Mitochondrial cytopathies (mutations del4977bp, G3460A, G11778A, T8993C, T8993G, A3271G, A3243G, T8356C, A8344G) CGC Genetics Portugal	1	1	C Sequence analysis of the entire coding region
Mitochondrial dealfness (mutation T1095C, A1555G, A3243G, A7445G, 7472insC, T7510C and T7511C) CGC Genetics Portugal	1	1	C Sequence analysis of the entire coding region
Complete mitochondrial DNA sequencing CGC Genetics Portugal	1	1	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.