Clinical and research tests for C3150909 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
2-OH Glutaric Aciduria Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Organic Aciduria Panel PreventionGenetics, part of Exact Sciences United States	39	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
D-2-hydroxyglutaric aciduria 2, 613657; D2HGA2 (D-2-hydroxyglutaric aciduria) (IDH2 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
D-2-hydroxyglutaric aciduria 2, 613657; D2HGA2 (D-2-hydroxyglutaric aciduria) (IDH2 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
IDH3A - Isocitrate dehydrogenase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
IDH3G - Isocitrate dehydrogenase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
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
Hydroxyglutaric Aciduria Panel 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
D-2-Hydroxyglutaric Aciduria Type II via the IDH2 Gene - Targeted Variants Analysis PreventionGenetics, part of Exact Sciences United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
2-Hydroxyglutaric Aciduria Panel Genetic Services Laboratory University of Chicago United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes. Genologica Medica Spain	53	53	C Sequence analysis of the entire coding region
Vascular Anomalies (VANseq) Expanded Sequencing Panel Seattle Children's Hospital Genetics Laboratories Seattle Children's United States	50	47	C Sequence analysis of the entire coding region
D-2-hydroxyglutaric aciduria: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Glioma (Susceptibility to Somatic) , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	7	12	C Sequence analysis of the entire coding region
Acute Myeloid Leukemia (Susceptibility to) , Panel Massive Sequencing (NGS) 21 Genes Reference Laboratory Genetics Spain	8	21	C Sequence analysis of the entire coding region

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