Clinical and research tests for C0010324 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
UGT1A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Crigler Najjar and Gilbert Syndrome Test Invitae United States	5	1	D Deletion/duplication analysis
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Crigler-Najjar syndrome, type I, 218800, Autosomal recessive (Crigler-Najjar syndrome) (UGT1A1 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
Crigler-Najjar syndrome, type I, 218800, Autosomal recessive (Crigler-Najjar syndrome) (UGT1A1 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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
UGT1A1 Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	1	1	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Detection of germline polymorphism UGT1A1 * 28 Genologica Medica Spain	5	1	C Sequence analysis of the entire coding region
Crigler-Najjar syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	1	C Sequence analysis of the entire coding region
Cholestasis NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	104	73	C Sequence analysis of the entire coding region
UGT1A1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
UGT1A1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
UGT1A1 Prenatal Sequence Analysis (GeneAware) (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Hyperbilirubinemia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	6	4	C Sequence analysis of the entire coding region
Hereditary hepatic diseases (55 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	36	55	C Sequence analysis of the entire coding region

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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.