Clinical and research tests for CN029274 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 78

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Congenital Muscular Dystrophy Panel Invitae United States	64	28	D Deletion/duplication analysis
Invitae Comprehensive Muscular Dystrophy Panel Invitae United States	114	52	D Deletion/duplication analysis
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
Invitae Dystonia Comprehensive Panel Invitae United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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
Type VI-Related Collagenopathy Panel PreventionGenetics, part of Exact Sciences United States	4	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Type VI Collagenopathy via the COL6A3 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
Type VI Collagenopathy via the COL6A2 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
Type VI Collagenopathy via the COL6A1 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 Muscular Dystrophy (CMD) Panel PreventionGenetics, part of Exact Sciences United States	34	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
COL6A3 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain	135	69	C Sequence analysis of the entire coding region
Panel of disorders related to collagen type VI. 6-gene NGS panel. Genologica Medica Spain	11	6	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 muscular dystrophy Asper Biogene Asper Biogene LLC Estonia	59	28	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 78

Results: 21 to 40 of 78