Clinical and research tests for C1843244 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Epilepsy, childhood absence, susceptibility to, 2, 607681, Autosomal dominant; ECA2 (Childhood absence epilepsy) (GABRG2 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
Invitae Neurotransmitter Disorders Panel Invitae United States	52	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel, Febrile CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	35	17	C Sequence analysis of the entire coding region
Epilepsy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	132	83	C Sequence analysis of the entire coding region
Childhood Epilepsy NGS Panel Fulgent Genetics United States	354	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GABA Metabolism Deficiency NGS Panel Fulgent Genetics United States	24	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States	182	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurotransmitter Metabolism Deficiency NGS Panel Fulgent Genetics United States	85	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dravet Syndrome NGS Panel Fulgent Genetics United States	27	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Reference Laboratory Genetics Spain	60	44	C Sequence analysis of the entire coding region
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes Reference Laboratory Genetics Spain	40	34	C Sequence analysis of the entire coding region
Epilepsy Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States	143	135	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Asper Biogene Asper Biogene LLC Estonia	210	204	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Comprehensive NGS Panel Fulgent Genetics United States	729	398	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy/Seizure NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	158	165	C Sequence analysis of the entire coding region
Idiopathic Generalized and Focal Epilepsy Panel CeGaT GmbH Germany	21	40	C Sequence analysis of the entire coding region
GABRG2 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.