Clinical and research tests for C1850569 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 70

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Nemaline Myopathy via the NEB Gene, Exons 82-105 (Triplicate Repeat Region) PreventionGenetics, part of Exact Sciences United States	1	1	E Sequence analysis of select exons T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
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
Invitae Comprehensive Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nemaline Myopathy Panel PreventionGenetics, part of Exact Sciences United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Myopathy Panel PreventionGenetics, part of Exact Sciences United States	58	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nemaline Myopathy via the NEB exon 55 deletion PreventionGenetics, part of Exact Sciences United States	1	1	T Targeted variant analysis
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Nemaline myopathy panel. NGS panel of 11 genes. Genologica Medica Spain	15	11	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
NEMALINE MYOPATHY 2 BioReference Health United States	1	1	T Targeted variant analysis
Super Panel Plus NxGen MDx United States	116	117	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Universal Panel Plus NxGen MDx United States	21	22	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Ashkenazi Jewish Panel NxGen MDx United States	20	21	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Super Panel 113 NxGen MDx United States	113	115	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Myopathy Panel, Congenital CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	33	17	C Sequence analysis of the entire coding region
Neuromuscular Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	138	62	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.

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Results: 21 to 40 of 70

Results: 21 to 40 of 70