Clinical and research tests for C0574084 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
OPA3 - 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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	202	128	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	394	319	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
3-methylglutaconic aciduria, type III, 258501, Autosomal recessive; MGCA3 (3-methylglutaconic aciduria type 3) (OPA3 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
3-methylglutaconic aciduria, type III, 258501, Autosomal recessive; MGCA3 (3-methylglutaconic aciduria type 3) (OPA3 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
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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Costeff Optic Atrophy Syndrome Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
OPA3 - 3-Methylglutaconic aciduria Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C5-OH Panel Labcorp Genetics (formerly Invitae) LabCorp United States	17	15	D Deletion/duplication analysis
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
PEO Panel by Massively Parallel Sequencing Baylor Genetics United States	18	10	C Sequence analysis of the entire coding region
mtDNA Depletion/Integrity Panel by Massively Parallel Sequencing Baylor Genetics United States	22	17	C Sequence analysis of the entire coding region

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