Clinical and research tests for C1860991 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Rasopathies NGS Panel Health in Code Spain	26	12	C Sequence analysis of the entire coding region
Abnormal Mineralization Panel Centogene US, LLC - The Rare Disease Company United States	95	95	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene US, LLC - The Rare Disease Company United States	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene US, LLC - The Rare Disease Company United States	829	848	C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene US, LLC - The Rare Disease Company United States	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
Abnormal Mineralization Panel Centogene AG - the Rare Disease Company Germany	95	95	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
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics United States	342	156	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Noonan Spectrum Disorders/RASopathies Panel PreventionGenetics United States	29	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MarrowZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	250	155	C Sequence analysis of the entire coding region
Non-Immune Hydrops Fetalis Panel PreventionGenetics 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

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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.

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Results: 1 to 20 of 109

Results: 1 to 20 of 109