Clinical and research tests for C4015316 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
GRIN2B - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	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
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Epileptic encephalopathy, early infantile, 27, 616139, Autosomal dominant; EIEE27 (West syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epileptic encephalopathy, early infantile, 27, 616139, Autosomal dominant; EIEE27 (West syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epileptic encephalopathy, early infantile, 27, 616139, Autosomal dominant; EIEE27 (West syndrome) (GRIN2B 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
Epileptic encephalopathy, early infantile, 27, 616139, Autosomal dominant; EIEE27 (West syndrome) (GRIN2B 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Developmental and Epileptic Encephalopathy via the GRIN2B 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
Invitae Neurotransmitter Disorders Panel Invitae United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Rett Syndrome, Angelman Syndrome and Variant Syndromes Panel PreventionGenetics, part of Exact Sciences United States	27	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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

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