Clinical and research tests for 4724 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 131

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFS4 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFS4 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Mitochondrial complex I deficiency, 252010, Autosomal recessive, X-linked dominant, Mitochondrial (Isolated complex I deficiency) (NDUFS4 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
WES mitochondrial disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	369	E Sequence analysis of select exons
NDUFS4 - Mitochondrial complex I deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Leigh and Leigh-Like Syndrome Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	41	63	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia Exome Genetic Services Laboratory University of Chicago United States	294	481	C Sequence analysis of the entire coding region
Dystonia Exome Genetic Services Laboratory University of Chicago United States	96	170	C Sequence analysis of the entire coding region
Mitochondrial Complex I Deficiency Panel (Nuclear Genes) PreventionGenetics, part of Exact Sciences United States	3	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Complex I Deficiency via the NDUFS4 Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NDUFS4 Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
NDUFS4 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NDUFS4 Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Epilepsy Panel Baylor Genetics United States	1	397	C Sequence analysis of the entire coding region
GeneAware™ Expanded Panel (Female) Baylor Genetics United States	1	422	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GeneAware™ Expanded Panel (Male) Baylor Genetics United States	1	382	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.