Clinical and research tests for C1969785 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 59

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Limb Girdle Muscular Dystrophy (LGMD) Panel PreventionGenetics, part of Exact Sciences United States	33	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ANO5 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel. Genologica Medica Spain	96	42	C Sequence analysis of the entire coding region
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain	89	52	C Sequence analysis of the entire coding region
Girdle muscular dystrophy. NGS panel of 39 genes. Genologica Medica Spain	84	39	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
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
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis Imperfecta and Decreased Bone Density NGS Panel Fulgent Genetics United States	111	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Gnathodiaphyseal Dysplasia (ANO5 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis Imperfecta Asper Biogene Asper Biogene LLC Estonia	80	41	C Sequence analysis of the entire coding region
Limb-Girdle Muscular Dystrophy Asper Biogene Asper Biogene LLC Estonia	87	39	C Sequence analysis of the entire coding region
Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain	159	111	C Sequence analysis of the entire coding region
Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes Reference Laboratory Genetics Spain	22	22	C Sequence analysis of the entire coding region
Autosomal Recessive Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 17 Genes Reference Laboratory Genetics Spain	18	17	C Sequence analysis of the entire coding region
Congenital Myopathy and Distal Myopathy NGS panel Asper Biogene Asper Biogene LLC Estonia	78	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L 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

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Results: 21 to 40 of 59

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.

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Results: 21 to 40 of 59

Results: 21 to 40 of 59