Clinical and research tests for 600438 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MYH6. Complete sequencing by NGS Laboratorio de Genetica Clinica SL Spain	1	1	E Sequence analysis of select exons
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
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156, Autosomal recessive; MTDPS15 (TFAM 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 DNA depletion syndrome 15 (hepatocerebral type), 617156, Autosomal recessive; MTDPS15 (TFAM 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
Next Generation Sequencing for Jaundice Associated Genes Variation Test National Taiwan University Hospital A1 Center National Taiwan University Hospital Taiwan	4	73	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
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal	1	306	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 GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
Comprehensive Eye panel Clinical Biochemical Genetics Diagnostic Laboratory University Of Miami Miller School Of Medicine United States	1	695	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	145	134	C Sequence analysis of the entire coding region
Mitochondrial DNA depletion syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	18	15	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.