Clinical and research tests for C0262436 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First < Prev

Page 2 of 6

Results: 21 to 40 of 111

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiac valvular dysplasia, X-linked, 314400, X-linked recessive; CVD1 (Congenital valvular dysplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cardiac valvular dysplasia, X-linked, 314400, X-linked recessive; CVD1 (Congenital valvular dysplasia) (FLNA 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
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brain Malformation Panel PreventionGenetics, part of Exact Sciences United States	79	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PulmZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	163	128	C Sequence analysis of the entire coding region
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Cardiac valvular dysplasia, X-linked NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac valvular dysplasia, X-linked 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
Cardiac valvular dysplasia, X-linked 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
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
Invitae Ehlers-Danlos Syndrome Panel Invitae United States	38	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First < Prev

Page 2 of 6

Results: 21 to 40 of 111

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.