Clinical and research tests for C3150989 - 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
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	185	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	114	52	D Deletion/duplication analysis
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
Limb Girdle Muscular Dystrophy (LGMD) Panel PreventionGenetics, part of Exact Sciences United States	34	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epidermolysis Bullosa with Pyloric Atresia and Plectinopathy via the PLEC Gene PreventionGenetics, part of Exact Sciences United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dermatological. Full panel Genologica Medica Spain	122	68	C Sequence analysis of the entire coding region
Congenital myasthenic syndromes panel. 18-gene NGS panel. Genologica Medica Spain	38	18	C Sequence analysis of the entire coding region
Epidermolysis bullosa panel. NGS panel of 24 genes. Genologica Medica Spain	55	24	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	138	62	C Sequence analysis of the entire coding region
PLEC Institute for Human Genetics University Medical Center Freiburg Germany	5	1	C Sequence analysis of the entire coding region
Muscular dystrophy, limb-girdle, autosomal recessive: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	27	29	C Sequence analysis of the entire coding region
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q Laboratorio de Genetica Clinica SL Spain	1	1	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
Muscular Dystrophy Advanced Evaluation Athena Diagnostics United States	53	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Limb Girdle Muscular Dystrophy Advanced Evaluation Athena Diagnostics United States	26	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing PLEC CeGaT GmbH Germany	4	1	C Sequence analysis of the entire coding region
Limb-Girdle Muscular Dystrophies Panel CeGaT GmbH Germany	28	34	C Sequence analysis of the entire coding region
PLEC1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	4	1	D Deletion/duplication analysis

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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.