Clinical and research tests for C2751807 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SYNE1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Emery-Dreifuss muscular dystrophy 4, autosomal dominant, 612998, Autosomal dominant; EDMD4 (Emery-Dreifuss muscular dystrophy) (SYNE1 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spinocerebellar Ataxia, Autosomal Recessive-8 via the SYNE1 Gene Exons 2-146 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
SYNE1 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
Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain	220	139	C Sequence analysis of the entire coding region
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	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
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
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Late-Onset Ataxia NGS Panel Fulgent Genetics United States	133	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Recessive Cerebellar Ataxia Type 1 (SYNE1 Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia NGS Panel Fulgent Genetics United States	533	149	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Emery-Dreifuss Muscular Dystrophy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	8	6	C Sequence analysis of the entire coding region

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