Clinical and research tests for C0270853 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Epilepsy exome Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Myoclonic epilepsy, juvenile, susceptibility to, 1, 254770, Autosomal dominant; EJM (Juvenile myoclonic epilepsy) (EFHC1 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
Myoclonic epilepsy, juvenile, susceptibility to, 1, 254770, Autosomal dominant; EJM (Juvenile myoclonic 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
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
Myoclonic Epilepsy (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	14	125	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
Severe Myoclonic Epilepsy (Dravet's Syndrome), Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain	11	11	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
JUVENILE MYOCLONIC EPILEPSY Laboratorio de Genetica Clinica SL Spain	4	6	C Sequence analysis of the entire coding region
Juvenile Myoclonic Epilepsy , Sequencing EFHC1 Gene Reference Laboratory Genetics Spain	1	1	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
Childhood Epilepsy Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	3	47	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
Juvenile myoclonic epilepsy Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Juvenile myoclonic epilepsy Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Malformations of Cortical Development MGZ Medical Genetics Center Germany	4	12	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
SLC25A22 MGZ Medical Genetics Center Germany	3	1	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.