Clinical and research tests for 498 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TTBK2 Gene Spinocerebellar ataxia type 11, autosomal dominant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ATP5F1A Gene Combined oxidative phosphorylation deficiency type 22 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ATP5F1A Gene Mitochondrial complex V deficiency, nuclear type 4 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
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
ATP5F1A - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	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
Combined oxidative phosphorylation deficiency 22, 616045, Autosomal recessive; COXPD22 (ATP5A1 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
Combined oxidative phosphorylation deficiency 22, 616045, Autosomal recessive; COXPD22 (ATP5A1 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
Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228, Autosomal recessive (Isolated ATP synthase deficiency) (ATP5A1 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
Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228, Autosomal recessive (Isolated ATP synthase deficiency) (ATP5A1 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
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
Mitochondrial Complex V Deficiency Panel (Nuclear Genes) PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Complex V Deficiency via the ATP5F1A (ATP5A1) Gene PreventionGenetics, part of Exact Sciences United States	2	1	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
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	1	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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