Clinical and research tests for C0028064 - 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
Hydrops fetalis panel for lysosomal disorders Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States	23	7	E Enzyme assay
Ataxia Exome Genetic Services Laboratory University of Chicago United States	294	481	C Sequence analysis of the entire coding region
Dystonia Exome Genetic Services Laboratory University of Chicago United States	96	170	C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	222	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Niemann-Pick Disease Types A and B Panel Labcorp Genetics (formerly Invitae) LabCorp United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Niemann-Pick Disease Type C Panel Labcorp Genetics (formerly Invitae) LabCorp United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ISCA2 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Niemann-Pick disease A/B: SMPD1 Sequencing Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	1	1	D Deletion/duplication analysis 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
Dystonia All Panel CeGaT GmbH Germany	49	54	C Sequence analysis of the entire coding region
Hereditary Degenerative Syndromes Panel CeGaT GmbH Germany	28	49	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
Niemann-Pick disease typa A and B Laboratory of Human Genetics GENOMED Health Care Center Poland	3	1	C Sequence analysis of the entire coding region
Niemann-Pick disease, type A .Acid Sphingomyelinase Deficiency-SMPD1 GGA - Galil Genetic Analysis Israel	1	1	C Sequence analysis of the entire coding region
Acid Sphingomyelinase Deficiency Molecular Genetics Laboratory Genetrack Biolabs Inc. Canada	1	2	T Targeted variant analysis
Acid Sphingomyelinase Deficiency Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic	1	1	E Enzyme assay C Sequence analysis of the entire coding region
Test for Acid Sphingomyelinase Deficiency Genome Diagnostics Laboratory The Hospital for Sick Children Canada	1	1	T Targeted variant analysis
Niemann Pick Disease Type A Center for Human Genetics, Inc United States	1	1	T Targeted variant analysis
Acid sphingomyelinase Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States	3	1	E Enzyme assay

Results: 1 to 19 of 19

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