Clinical and research tests for C0162674 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	48	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Primordial Dwarfism Panel Genetic Services Laboratory University of Chicago United States	18	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy exome Genetic Services Laboratory University of Chicago United States	47	125	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PGmito - Mitochondrial Genome Sequencing PreventionGenetics, part of Exact Sciences United States	16	38	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
Mito Genome Sequencing & Deletion Testing GeneDx United States	24	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	75	240	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States	416	235	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Optic Atrophy & Early Glaucoma NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	40	34	C Sequence analysis of the entire coding region
OFTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL Laboratorio de Genetica Clinica SL Spain	2	2	X Mutation scanning of select exons C Sequence analysis of the entire coding region
Neuro-Ophthalmology Panel Blueprint Genetics Finland	3	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progressive External Opthalmoplegia Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	1	6	C Sequence analysis of the entire coding region
VARS2 Single Gene Fulgent Genetics United States	9	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MGME1 Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DNA2 Single Gene Fulgent Genetics United States	24	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Liver Diseases Panel by next-generation sequencing (NGS) Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	71	72	C Sequence analysis of the entire coding region T Targeted variant analysis
mtDNA Depletion Syndrome NGS Panel Fulgent Genetics United States	86	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kearns Sayre syndrome MGZ Medical Genetics Center Germany	5	8	D Deletion/duplication analysis S Mutation scanning of the entire coding region 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
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis 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.