Clinical and research tests for C0002986 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Fabry disease (GLA gene) Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
CentoScreen Centogene US, LLC - The Rare Disease Company United States	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoNephro Plus Panel Centogene US, LLC - The Rare Disease Company United States	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy Panel Centogene US, LLC - The Rare Disease Company United States	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant 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
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
Lysosomal Storage Disorders Panel PreventionGenetics United States	243	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral Small Vessel Disease Panel PreventionGenetics United States	13	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral small vessel disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Fabry disease NGS Test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Fabry disease 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
Cerebral small vessel disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics United States	201	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease NGS panel HNL Genomics Connective Tissue Gene Tests United States	14	15	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital heart disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	18	26	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.