Clinical and research tests for uracyl - 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
Purines and Pyrimidines Panel, U Mayo Clinic Laboratories Mayo Clinic United States	1	3	A Analyte
UGT1A1 TA Repeat Genotype Mayo Clinic Laboratories Mayo Clinic United States	6	1	T Targeted variant analysis
UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing Mayo Clinic Laboratories Mayo Clinic United States	10	1	C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5130	4674	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Organic Acids, Comprehensive, Quantitative, Urine Quest Diagnostics Nichols Institute San Juan Capistrano United States	38	54	A Analyte
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
UNG Gene Immunodeficiency type 5, with hyper IgM 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
UNG - 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Immunodeficiency with hyper IgM, type 5, 608106, Autosomal recessive; HIGM5 (Hyper-IgM syndrome without susceptibility to opportunistic infections) (UNG 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
Immunodeficiency with hyper IgM, type 5, 608106, Autosomal recessive; HIGM5 (Hyper-IgM syndrome without susceptibility to opportunistic infections) (UNG 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
Primary Antibody Deficiency Panel PreventionGenetics, part of Exact Sciences United States	50	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hyper IgM Syndrome 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
Invitae Hyper IgM Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	8	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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