Clinical and research tests for C0037769 - 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
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
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms Athena Diagnostics Inc United States	18	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability Athena Diagnostics Inc United States	57	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
WEST SYNDROME Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
Syndromal Diseases - panels MGZ Medical Genetics Center Germany	14	342	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental Retardation and Dysmorphology - panels MGZ Medical Genetics Center Germany	15	343	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurogenetic Disorders - panels MGZ Medical Genetics Center Germany	14	597	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infantile Epilepsy Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	2	60	C Sequence analysis of the entire coding region
Epilepsy MGZ Medical Genetics Center Germany	17	212	C Sequence analysis of the entire coding region
Febrile Seizures MGZ Medical Genetics Center Germany	17	8	C Sequence analysis of the entire coding region
Epilepsy and Mitochondrial Encephalopathy MGZ Medical Genetics Center Germany	17	186	C Sequence analysis of the entire coding region
Progressive Myoclonic Epilepsy MGZ Medical Genetics Center Germany	13	31	C Sequence analysis of the entire coding region
Epileptic Encephalopathy – Basic Diagnostics MGZ Medical Genetics Center Germany	14	22	C Sequence analysis of the entire coding region
Malignant Migrating Partial Seizures of Infancy MGZ Medical Genetics Center Germany	17	3	C Sequence analysis of the entire coding region
Epileptic Encephalopathy MGZ Medical Genetics Center Germany	17	89	C Sequence analysis of the entire coding region
Epilepsy and Hypomyelination MGZ Medical Genetics Center Germany	8	8	C Sequence analysis of the entire coding region
Familial Focal Epilepsy MGZ Medical Genetics Center Germany	8	6	C Sequence analysis of the entire coding region
Juvenile Myoclonic Epilepsy (JME) MGZ Medical Genetics Center Germany	17	2	C Sequence analysis of the entire coding region
Malignant Migrating Epilepsy of Infancy MGZ Medical Genetics Center Germany	17	3	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 21

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.