Clinical and research tests for C0014553 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
EFHC1 - 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
Epilepsy, juvenile absence, susceptibility to, 1, 607631, Autosomal dominant; EJA1 (Juvenile absence epilepsy) (EFHC1 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
Generalized idiopathic and focal epilepsy panel. 34-gene NGS panel. Genologica Medica Spain	74	34	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
Epilepsy Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	132	83	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
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 Advanced Sequencing and CNV Evaluation Athena Diagnostics United States	233	234	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Athena Diagnostics United States	80	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Childhood absence epilepsy Laboratory of Human Genetics GENOMED Health Care Center Poland	2	6	C Sequence analysis of the entire coding region
Panel on demand MGZ Medical Genetics Center Germany	25	1	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
EFHC1 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
IGE/JME/CAE panel Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	20	11	E Sequence analysis of select exons C Sequence analysis of the entire coding region
Epilepsy, juvenile absence MedGene Slovakia	1	1	C Sequence analysis of the entire coding region
Epilepsy, juvenile absence Praxis fuer Humangenetik Wien Austria	1	1	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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