Clinical and research tests for RASA2 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Non-NF1 RASopathy NGS Panel UAB Medical Genomics Laboratory UAB Medicine United States	7	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NOONAN SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	5	16	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
RASOPATHY-RELATED SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	9	19	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae RASopathies and Noonan Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	28	D Deletion/duplication analysis
Noonan Spectrum Disorders/RASopathies Panel PreventionGenetics, part of Exact Sciences United States	29	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan spectrum disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan Syndrome via the RASA2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan spectrum disorder NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan spectrum disorder Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan spectrum disorder Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pan Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	112	111	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypertrophic Cardiomyopathy Panel PreventionGenetics, part of Exact Sciences United States	67	64	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States	224	202	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneSeq® Cardio Single Gene Analysis Integrated Genetics Westborough LabCorp United States	55	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rasopathies panel with interpretation Clinical Genomics Laboratory Washington University in St. Louis United States	1	26	C Sequence analysis of the entire coding region
RASA2 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Syndromes with short stature (WES based NGS panel of 104 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	104	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.