Clinical and research tests for C1969623 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
NGS RASopathy Panel Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	9	14	C Sequence analysis of the entire coding region
NF1/SPRED1 Next Generation Sequencing and Deletion/Duplication Medical Genomics Laboratory Department of Genetics UAB United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan Syndrome and Related Panel Mayo Clinic Laboratories Mayo Clinic United States	15	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RASopathy NGS Panel Medical Genomics Laboratory Department of Genetics UAB United States	8	18	D Deletion/duplication analysis E Sequence analysis of select exons
Non-NF1 RASopathy NGS Panel Medical Genomics Laboratory Department of Genetics UAB United States	7	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rasopathies NGS Panel Health in Code Spain	26	12	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
NEUROFIBROMATOSIS TYPE 1 - NF1 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	2	2	D Deletion/duplication analysis L Linkage analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
LEGIUS SYNDROME - SPRED1 gene Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	2	2	D Deletion/duplication analysis L Linkage analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
SPRED1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis 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
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae RASopathies and Noonan Spectrum Disorders Panel Invitae 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
Neurofibromatosis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	6	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
Neurofibromatosis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neurofibromatosis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	6	D Deletion/duplication analysis 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.