Clinical and research tests for C4225372 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	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
Myasthenic syndrome, congenital, 3A, slow-channel, 616321, Autosomal dominant; CMS3A (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
Myasthenic syndrome, congenital, 3A, slow-channel, 616321, Autosomal dominant; CMS3A (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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital 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 Invitae United States	38	21	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae 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
Complete panel of pulmonology. NGS panel of 66 genes. Genologica Medica Spain	115	66	C Sequence analysis of the entire coding region
Congenital myasthenic syndromes panel. 18-gene NGS panel. Genologica Medica Spain	38	18	C Sequence analysis of the entire coding region
Central hypoventilation and apnea panel. NGS panel of 15 genes. Genologica Medica Spain	37	15	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
Congenital Myasthenic Syndromes (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	26	22	C Sequence analysis of the entire coding region

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