Clinical and research tests for 100710 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Myasthenic Syndrome Panel Genetic Services Laboratory University of Chicago United States	12	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LGMD and CMS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Congenital Myasthenia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	117	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CHRNB1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Pulmonary Panel Centogene AG - the Rare Disease Company Germany	99	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome Panel PreventionGenetics, part of Exact Sciences United States	59	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314, Autosomal recessive; CMS2A (Congenital myasthenic syndrome) (CHRNB1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Autosomal dominant; CMS2A (Congenital myasthenic syndrome) (CHRNB1 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
Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Autosomal dominant; CMS2A (Congenital myasthenic syndrome) (CHRNB1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314, Autosomal recessive; CMS2A (Congenital myasthenic syndrome) (CHRNB1 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 University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region

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