Clinical and research tests for C0282512 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GRIN2A - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
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
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Epilepsy exome Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy, focal, with speech disorder and with or without mental retardation, 245570, Autosomal dominant; FESD (Rolandic epilepsy-speech dyspraxia syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epilepsy, focal, with speech disorder and with or without mental retardation, 245570, Autosomal dominant; FESD (Rolandic epilepsy-speech dyspraxia syndrome) (GRIN2A 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
Epilepsy, focal, with speech disorder and with or without mental retardation, 245570, Autosomal dominant; FESD (Rolandic epilepsy-speech dyspraxia syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epilepsy, focal, with speech disorder and with or without mental retardation, 245570, Autosomal dominant; FESD (Rolandic epilepsy-speech dyspraxia syndrome) (GRIN2A 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
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GRIN2A Amplexa Genetics Amplexa Genetics A/S Denmark	1	1	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Focal Epilepsy with Speech Disorder via the GRIN2A 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
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States	144	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Early Infantile Epileptic Encephalopathy Panel Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	234	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Generalized idiopathic and focal epilepsy panel. 34-gene NGS panel. Genologica Medica Spain	74	34	C Sequence analysis of the entire coding region
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain	197	128	C Sequence analysis of the entire coding region
Complete epilepsy panel. NGS panel of 283 genes. Genologica Medica Spain	409	283	C Sequence analysis of the entire coding region
Rett syndrome and other related syndromes. 34-gene NGS panel. Genologica Medica Spain	58	34	C Sequence analysis of the entire coding region

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