Clinical and research tests for C3808964 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 37 of 37

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Limb girdle muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	239	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	376	266	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	64	28	D Deletion/duplication analysis
Invitae Comprehensive Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	114	52	D Deletion/duplication analysis
Invitae Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Limb-Girdle Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	91	37	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Dystroglycanopathies via the POMK Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Muscular Dystrophy (CMD) Panel PreventionGenetics, part of Exact Sciences United States	34	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dystroglycan-Related Congenital Muscular Dystrophy Panel PreventionGenetics, part of Exact Sciences United States	22	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Brain Malformation Panel Genetic Services Laboratory University of Chicago United States	37	131	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	111	56	C Sequence analysis of the entire coding region
Muscular dystrophy-dystroglycanopathy, type A: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	14	14	C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region
POMK MVZ Dr. Eberhard & Partner Dortmund Germany	2	1	C Sequence analysis of the entire coding region
Muscular Dystrophies Panel CeGaT GmbH Germany	37	32	C Sequence analysis of the entire coding region

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Results: 21 to 37 of 37

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.