Clinical and research tests for C5574870 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Next-Gen Sequencing of HRAS Only for Costello Syndrome Medical Genomics Laboratory Department of Genetics UAB United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkes Weber syndrome NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Parkes Weber syndrome 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
Parkes Weber syndrome 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
HHTNext® Ambry Genetics United States	10	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vascular malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	20	19	C Sequence analysis of the entire coding region T Targeted variant analysis
Vascular malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	20	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary hemorrhagic telangiectasia (HHT) Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	8	9	D Deletion/duplication analysis
Capillary Malformation-Arteriovenous Malformation NGS Panel Medical Genomics Laboratory Department of Genetics UAB United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vascular Malformations Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	24	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PARKES-WEBER SYNDROME Laboratorio de Genetica Clinica SL Spain	1	1	D Deletion/duplication analysis
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing and Del/Dup Panel GeneDx United States	3	5	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
Parkes Weber Syndrome (RASA1 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1 Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan and RASopathies NGS Panel Fulgent Genetics United States	235	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASA1-Related Disorders: gene deletion/duplication CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	1	C Sequence analysis of the entire coding region
RASA1-Related Disorders: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	1	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.