Clinical and research tests for C1838049 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CHRNA4 - 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
Epilepsy, nocturnal frontal lobe, 1, 600513, Autosomal dominant; ENFL1 (Autosomal dominant nocturnal frontal lobe epilepsy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Epilepsy, nocturnal frontal lobe, 1, 600513, Autosomal dominant; ENFL1 (Autosomal dominant nocturnal frontal lobe epilepsy) (CHRNA4 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 Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via the CHRNA4 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
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
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
Epilepsy, nocturnal frontal lobe: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	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
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
Nocturnal Frontal Lobe Epilepsy , Panel Massive Sequencing (NGS) CHRNA2,CHRNA4,CHRNB2 Gene Reference Laboratory Genetics Spain	3	3	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 Advanced Sequencing and CNV Evaluation Athena Diagnostics Inc 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 Inc United States	80	84	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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