Clinical and research tests for 29958 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
DMGDH Gene Dimethylglycine dehydrogenase deficiency 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
DMGDH - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dimethylglycine dehydrogenase deficiency, 605850, Autosomal recessive; DMGDHD (Dimethylglycine dehydrogenase deficiency) (DMGDH 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
Dimethylglycine dehydrogenase deficiency, 605850, Autosomal recessive; DMGDHD (Dimethylglycine dehydrogenase deficiency) (DMGDH 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 metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Dimethylglycine Dehydrogenase Deficiency via the DMGDH Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dimethylglycine dehydrogenase deficiency (sequencing of the DMGDH gene) CGC Genetics Unilabs Portugal	1	1	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
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
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mosaic Carrier Test GeneDx United States	1	1040	T Targeted variant analysis
Two Known Familial Variants in a Nuclear Gene GeneDx United States	1	1043	T Targeted variant analysis
One Known Familial Variant in a Nuclear Gene GeneDx United States	1	1045	T Targeted variant analysis
Nuclear encoded Mitochondriopathies Panel CeGaT GmbH Germany	37	284	C Sequence analysis of the entire coding region
DMGDH Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis 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.