Clinical and research tests for C3281160 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 66

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Connective tissue disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	37	47	C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	37	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective tissue disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	37	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome Comprehensive panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Deletion / Duplication panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome NGS panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Comprehensive panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive HNL Genomics Connective Tissue Gene Tests United States	14	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Deletion / Duplication panel - Recessive HNL Genomics Connective Tissue Gene Tests United States	8	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Ehlers-Danlos Syndrome Panel Invitae United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Congenital Myopathy Panel Invitae United States	58	36	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Ehlers-Danlos Syndrome with Progressive Kyphosis, Myopathy, and Hearing Loss (EDSKMH) via the FKBP14 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
Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States	99	65	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome panel. 32-gene NGS panel. Genologica Medica Spain	85	32	C Sequence analysis of the entire coding region
Aortic disease panel. 41-gene NGS panel. Genologica Medica Spain	94	41	C Sequence analysis of the entire coding region
FKBP14 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
Ehlers Danlos Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	31	14	C Sequence analysis of the entire coding region
Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	112	45	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.