Clinical and research tests for C2930997 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Congenital Disorders of Glycosylation, Type Ic (CDG Ic) via the ALG6 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
Congenital Disorders of Glycosylation (CDG) Panel (Types Ia, Ib, and Ic) PreventionGenetics, part of Exact Sciences United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ALG6 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	234	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis 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
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
ALG6 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States	1	1	E Sequence analysis of select exons
ALG6 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	T Targeted variant analysis
ALG6 Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Horizon 274 Plus TSE Natera, Inc. United States	265	275	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Horizon 274 Natera, Inc. United States	265	274	E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
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
Congenital disorders of glycosylation, type I: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	26	26	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
ALG6-congenital Disorder Of Glycosylation (ALG6 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis 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.