Clinical and research tests for C1837091 - 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
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	115	136	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	115	136	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
CHRNE - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHRNE - 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
Carrier Screening Guidelines-Based Panel Ambry Genetics United States	199	165	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome Panel PreventionGenetics United States	58	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Autosomal recessive; CMS4C (Congenital myasthenic syndrome) (CHRNE gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Autosomal recessive; CMS4C (Congenital myasthenic syndrome) (CHRNE gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre 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 United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Congenital Myasthenic Syndrome Panel Invitae United States	38	21	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Rapsyn-Related Disorders via the RAPSN Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myasthenic Syndrome via the MUSK Gene PreventionGenetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region

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