Clinical and research tests for 191740 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Gilbert syndrome (UGT1A1 gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	3	T Targeted variant analysis
Crigler-Najjar syndrome testing (UGT1A1) Genetic Services Laboratory University of Chicago United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Precision HealthPGx Panel (25 Genes) RPRD Diagnostics, LLC United States	97	23	D Deletion/duplication analysis T Targeted variant analysis
Admera Health PGxOne™ Plus Admera Health United States	99	16	T Targeted variant analysis
Whole Pharmacogenomics Scan RPRD Diagnostics, LLC United States	107	69	D Deletion/duplication analysis T Targeted variant analysis
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Mayo Clinic Laboratories Mayo Clinic United States	39	40	C Sequence analysis of the entire coding region
Pharmacogenomics Profile + HLA AccessDx Lab LLC United States	71	38	D Deletion/duplication analysis T Targeted variant analysis
UGT1A1 Gene Crigler-Najjar syndrome, type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
UGT1A1 Gene Crigler-Najjar syndrome, type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
UGT1A1 Gene Gilbert syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
UGT1A1 Gene Hyperbilirubinemia, familial transient neonatal NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Genetic study of pharmacogenetics HeartGenetics, Genetics and Biotechnology, SA Portugal	1	26	T Targeted variant analysis
UGT1A1 TA Repeat Genotype Mayo Clinic Laboratories Mayo Clinic United States	6	1	T Targeted variant analysis
Red Blood Cell Enzyme Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States	19	17	C Sequence analysis of the entire coding region
Congenital Dyserythropoietic Anemia Panel, Next-Generation Sequencing Mayo Clinic Laboratories Mayo Clinic United States	6	10	C Sequence analysis of the entire coding region
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
Tempus xT Tempus Labs, Inc. United States	2	646	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies BloodGenetics Spain	33	36	C Sequence analysis of the entire coding region
UGT1A1 genotyping for irinotecan dosing Genetic Services Laboratory University of Chicago United States	1	1	T Targeted variant analysis
UGT1A1 genotyping for Gilbert Syndrome Genetic Services Laboratory University of Chicago United States	1	1	T Targeted variant analysis

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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.

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Results: 1 to 20 of 130

Results: 1 to 20 of 130