Clinical and research tests for C0162670 - 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
Mitochondrial Full Genome Analysis Mayo Clinic Laboratories Mayo Clinic United States	29	37	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
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
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Disorders Panel Dhiti Omics Technologies Private Ltd India	28	37	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
mtDNA Targeted Analysis: Known Familial Mutation Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	34	T Targeted variant analysis
mtDNA Targeted Analysis with Heteroplasmy: Known Familial Mutation Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	34	T Targeted variant analysis
Expanded 93 mtDNA Variant Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	11	34	T Targeted variant analysis
Mito Genome Sequencing & Deletion Testing GeneDx United States	24	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rhabdomyolysis & Metabolic Myopathies NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	46	47	C Sequence analysis of the entire coding region
PNPLA8 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial Encephalopathy MGZ Medical Genetics Center Germany	6	131	C Sequence analysis of the entire coding region
Mitochondrial Hepato(encephalo)pathy and Phenocopies MGZ Medical Genetics Center Germany	6	15	C Sequence analysis of the entire coding region
Mitochondrial Myopathy MGZ Medical Genetics Center Germany	2	15	C Sequence analysis of the entire coding region
Mitochondrial Diseases MGZ Medical Genetics Center Germany	6	168	C Sequence analysis of the entire coding region
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic MGZ Medical Genetics Center Germany	6	33	C Sequence analysis of the entire coding region
Mitochondrial Diseases (mtDNA and 217 nuclear genes) Asper Biogene Asper Biogene LLC Estonia	89	210	C Sequence analysis of the entire coding region
Mitochondrial Leucodystrophy MGZ Medical Genetics Center Germany	3	5	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.