Clinical and research tests for C4225280 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LZTR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	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
Invitae RASopathies and Noonan Spectrum Disorders Panel Invitae United States	60	28	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	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
Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States	291	148	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 10, 616564, Autosomal dominant; NS10 (Noonan syndrome) (LZTR1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Noonan syndrome 10, 616564, Autosomal dominant; NS10 (Noonan syndrome) (LZTR1 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
Noonan syndrome 10, 616564, Autosomal dominant; NS10 (Noonan syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Noonan syndrome 10, 616564, Autosomal dominant; NS10 (Noonan syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cancer Screen Invitae United States	160	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan syndrome core NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	14	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.