Clinical and research tests for C1843851 AND 255845 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
Mitochondrial Encephalopathy MGZ Medical Genetics Center Germany	6	131	C Sequence analysis of the entire coding region
Mitochondrial Hepato(encephalo)pathy and Phenocopies MGZ Medical Genetics Center Germany	6	15	C Sequence analysis of the entire coding region
Muscle Disease with Ptosis / External Ophthalmoplegia MGZ Medical Genetics Center Germany	3	26	C Sequence analysis of the entire coding region
Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) MGZ Medical Genetics Center Germany	5	9	C Sequence analysis of the entire coding region
Mitochondrial Diseases MGZ Medical Genetics Center Germany	6	168	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
Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic MGZ Medical Genetics Center Germany	6	33	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
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
POLG-Related Disorders MGZ Medical Genetics Center Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TWNK/C10orf2-Related Mitochondrial Disorder MGZ Medical Genetics Center Germany	8	1	D Deletion/duplication analysis 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.