Clinical and research tests for C4303552 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
COG4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital disorder of glycosylation, type IIj, 613489, Autosomal recessive; CDG2J (COG4-CDG) (COG4 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
Congenital disorder of glycosylation, type IIj, 613489, Autosomal recessive; CDG2J (COG4-CDG) (COG4 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
Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States	56	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation, Type IIj via the COG4 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
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
Congenital disorder of glycosylation, type 2: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	20	20	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
Congenital disorders of glycosylation, type II: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	17	17	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 Disorders of Glycosylation, Panel Massive Sequencing (NGS) 30 Genes Reference Laboratory Genetics Spain	30	30	C Sequence analysis of the entire coding region
COG4 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Disorders of Glycosylation NGS Panel Fulgent Genetics United States	43	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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