Clinical and research tests for C4749905 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	205	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CD320 - 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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	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
Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (Methylmalonic aciduria due to transcobalamin receptor defect) (CD320 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
Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (Methylmalonic aciduria due to transcobalamin receptor defect) (CD320 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
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel PreventionGenetics, part of Exact Sciences United States	34	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Methylmalonic Acidemia and Homocystinuria Panel Labcorp Genetics (formerly Invitae) LabCorp United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	222	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C3 Panel Labcorp Genetics (formerly Invitae) LabCorp United States	15	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	118	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Methylmalonic Aciduria and/or Homocystinuria via the CD320 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
Methylmalonic Acid - Plasma Baylor Genetics United States	9	1	A Analyte
Homocysteine Determination - Plasma Baylor Genetics United States	10	2	A Analyte
Methylmalonic Aciduria and Homocystinuria Panel PreventionGenetics, part of Exact Sciences United States	8	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Methylmalonic Acidemia Panel PreventionGenetics, part of Exact Sciences United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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