Clinical and research tests for C1959620 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Purines and Pyrimidines Panel, P Mayo Clinic Laboratories Mayo Clinic United States	3	3	A Analyte
Dihydropyrimidine Dehydrogenase Genotype Mayo Clinic Laboratories Mayo Clinic United States	4	1	T Targeted variant analysis
DPYD Full Gene Sequencing Mayo Clinic Laboratories Mayo Clinic United States	4	1	C Sequence analysis of the entire coding region
CentoMetabolic MOx Centogene AG - the Rare Disease Company Germany	195	221	A Analyte D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
DPYD - 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
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	164	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
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dihydropyrimidine dehydrogenase deficiency, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Dihydropyrimidine dehydrogenase deficiency, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (DPYD 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
Dihydropyrimidine dehydrogenase deficiency, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (DPYD 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
Dihydropyrimidine dehydrogenase deficiency, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
5-fluorouracil toxicity, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
5 fluorouracil toxicity (DPD gene - Allel 2A-IVS14+1G-A and 3,4,5A,7,8,9,10,12,*13, M166V, R886H, D949V allels) (SnapShot analysis) (DPYD 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
5-fluorouracil toxicity, 274270, Autosomal recessive (Dihydropyrimidine dehydrogenase deficiency) (DPYD 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

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