Clinical and research tests for C0751885 - 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
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, 1A, slow-channel, 601462, Autosomal dominant; CMS1A (Congenital myasthenic syndrome) (CHRNA1 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, 1A, slow-channel, 601462, Autosomal dominant; CMS1A (Congenital myasthenic syndrome) (CHRNA1 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
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
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
Congenital Myasthenic Syndromes via the CHRNB1 Gene 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
Congenital Myasthenic Syndromes and Multiple Pterygium Syndrome via the CHRND Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myasthenic Syndromes and Lethal Multiple Pterygium Syndrome via the CHRNA1 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myasthenic Syndrome via the CHRNE Gene 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
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
Arthrogryposis Panel GeneDx United States	156	91	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myastenia Syndrome Panel, Congenital CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	29	15	C Sequence analysis of the entire coding region
Arthrogryposis NGS Panel Fulgent Genetics United States	175	60	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States	716	335	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.