Clinical and research tests for C4707243 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hyper-IgE Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	32	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Aortopathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	54	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	22	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebrovascular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan and Related Conditions Panel Mayo Clinic Laboratories Mayo Clinic United States	37	30	D Deletion/duplication analysis S Mutation scanning of the entire coding region
NewbornGeneID GeneID Lab - Advanced Molecular Diagnostics United States	73	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	223	198	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniofacial Panel Genetic Services Laboratory University of Chicago United States	31	35	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
Marfan/TAAD Panel GeneDx United States	5	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rest of Marfan-TAAD Sequencing & Del-Dup Panel if test #918 is negative GeneDx United States	5	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rest of Heritable Disorders of Connective Tissue after Marfan/TAAD Sequencing and Del/Dup Panel GeneDx United States	15	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Custom Cardiology Sequencing and Del/Dup Panel GeneDx United States	30	270	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan syndrome, EDS and other connective tissue disorders - different panels Institute of Human Genetics Cologne University Germany	10	47	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thoracic aortic diseases Institute of Human Genetics Cologne University Germany	1	11	D Deletion/duplication analysis S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Aorta Panel Blueprint Genetics Finland	2	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
STAMBPL1 Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRKG1 Single Gene Fulgent Genetics United States	5	1	D Deletion/duplication analysis 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.