Clinical and research tests for 600669 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Idiopathic Generalized Epilepsy, GLUT1 deficiency Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	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
Syndromal Diseases - panels MGZ Medical Genetics Center Germany	14	342	D Deletion/duplication analysis 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
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
Epilepsy/Seizure NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	158	165	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
KCNT1 MGZ Medical Genetics Center Germany	4	1	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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Results: 1 to 20 of 23

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.