Clinical and research tests for CN180166 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 26

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Alpers syndrome Institute of Human Genetics Cologne University Germany	8	1	C Sequence analysis of the entire coding region
Comprehensive Metabolism Panel Blueprint Genetics Finland	14	434	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
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
POLG Gene Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	4	1	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
Basal ganglia calcification Panel CeGaT GmbH Germany	52	27	C Sequence analysis of the entire coding region
Atypical Parkinson syndrome Panel CeGaT GmbH Germany	25	24	C Sequence analysis of the entire coding region
Ataxia and differential diagnoses Panel CeGaT GmbH Germany	173	204	C Sequence analysis of the entire coding region
Parkinson all Panel CeGaT GmbH Germany	42	48	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
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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 26

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.