Clinical and research tests for 616323 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, 616323, Autosomal recessive; CMS3C (Congenital myasthenic syndrome) (CHRND 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, 3C, associated with acetylcholine receptor deficiency, 616323, Autosomal recessive; CMS3C (Congenital myasthenic syndrome) (CHRND 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis 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
Multiple pterygium syndrome, lethal type NGS panel HNL Genomics Connective Tissue Gene Tests United States	7	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Multiple pterygium syndrome, lethal type Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Multiple pterygium syndrome, lethal type Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	7	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Myasthenic Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States	38	21	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication 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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