Clinical and research tests for 224100 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 48

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
KIF23 - congenital dyserythropoietic anemia, type III Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Dyserythropoietic Anemia Panel PreventionGenetics, part of Exact Sciences United States	8	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Dyserythropoietic Anemia Type II via the SEC23B 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
Macrocephaly Panel Genetic Services Laboratory University of Chicago United States	26	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NODAL Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	4	1	S Mutation scanning of the entire coding region
Panel of congenital disorders of glycosylation. NGS panel of 47 genes. Genologica Medica Spain	55	47	C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	51	41	C Sequence analysis of the entire coding region
Congenital Disorders of Glycolysation Asper Biogene Asper Biogene LLC Estonia	53	49	C Sequence analysis of the entire coding region
Anemia, congenital dyserythropoietic: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Dyserythropoietic Anemia , Panel Massive Sequencing (NGS) 4 Genes Reference Laboratory Genetics Spain	4	4	C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Reference Laboratory Genetics Spain	30	30	C Sequence analysis of the entire coding region
Congenital Dyserytrhopoietic Anemia Type II, Sequencing SEC23B Gene Reference Laboratory Genetics Spain	1	1	C Sequence analysis of the entire coding region
CONGENITAL DYSERYTHROPOIETIC ANEMIA, TYPE 2 Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Erythrocytes, Anemia Panel CeGaT GmbH Germany	14	33	C Sequence analysis of the entire coding region
Hemolytic Anemia Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	33	34	E Sequence analysis of select exons
Congenital dyserythropoietic anemia type 2 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Oguchi disease-1 Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Non-Immune Hydrops NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	86	87	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 48

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.