Clinical and research tests for C0268338 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome, type IV Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome, type IV Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome, type IV Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome, type IV HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FBN1 gene sequence and deletion/duplication reflex to TAADNext® Ambry Genetics United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	18	27	C Sequence analysis of the entire coding region T Targeted variant analysis
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	18	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	18	27	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Deletion / Duplication panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos syndrome core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome NGS panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	7	9	C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome Comprehensive panel - Dominant HNL Genomics Connective Tissue Gene Tests United States	7	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ehlers-Danlos syndrome core Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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 core NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis

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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.