Clinical and research tests for C1328349 - 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	47	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	12	1	D Deletion/duplication analysis S Mutation scanning of the entire coding region E Sequence analysis of select exons
Mitochondrial Full Genome Analysis Mayo Clinic Laboratories Mayo Clinic United States	29	37	C Sequence analysis of the entire coding region
PGmito - Mitochondrial Genome Sequencing PreventionGenetics United States	16	38	C Sequence analysis of the entire coding region
mtDNA - mitochondriopathy (NARP) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Neuropathy, Ataxia and Retinis pigmentosa (NARP) : T8993G mutation study Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	1	1	T Targeted variant analysis
Myoclonic epilepsy with ragged-red fibers(MERRF), Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS), LEIGH, Neuropathy,Ataxia and retinis pigmentosa(NARP) mutations study Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India	4	3	T Targeted variant analysis
MT-ATP6. Detection of the mutations m.8993T>G and m.8993T>C by sequencing IGENOMIX Spain	1	1	C Sequence analysis of the entire coding region
MTATP6. Detection of the mutations m.8993T>G and m.8993T>C by sequencing IGENOMIX Spain	1	1	T Targeted variant analysis
Mitochondrial Disorders Panel Dhiti Omics Technologies Private Ltd India	28	37	C Sequence analysis of the entire coding region
Common 29 mtDNA Variant Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	9	17	T Targeted variant analysis
Neuropathy, ataxia, and retinitis pigmentosa (NARP, sequence analysis of MTATP6 gene) Unilabs Genetics CGC Genetics Portugal	1	1	C Sequence analysis of the entire coding region
Leigh syndrome ; NARP (m.8993T>G and m.8993T>C mutation on MT-ATP6 gene) Unilabs Genetics CGC Genetics Portugal	2	1	C Sequence analysis of the entire coding region
65 mtDNA Point Mutations plus Large Deletions Panel GeneDx United States	17	65	D Deletion/duplication analysis T Targeted variant analysis
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
NEUROPATHY, ATAXIA Y RETINITIS PIGMENTOSA (NARP) Laboratorio de Genetica Clinica SL Spain	1	1	X Mutation scanning of select exons
NARP syndrome Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP) Athena Diagnostics Inc United States	6	4	C Sequence analysis of the entire coding region T Targeted variant analysis
NARP syndrome MedGene Slovakia	1	1	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.