Clinical and research tests for TPK1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Episodic Ataxia Panel PreventionGenetics, part of Exact Sciences United States	61	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pyruvate Dehydrogenase Complex Deficiency Panel PreventionGenetics, part of Exact Sciences United States	17	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458, Autosomal recessive (Childhood encephalopathy due to thiamine pyrophosphokinase deficiency) (TPK1 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
Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458, Autosomal recessive (Childhood encephalopathy due to thiamine pyrophosphokinase deficiency) (TPK1 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
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
TPK1 - Thiamine metabolism dysfunction syndrome 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
Ataxia Exome Genetic Services Laboratory University of Chicago United States	294	481	C Sequence analysis of the entire coding region
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis 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
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Baylor Genetics United States	1	397	C Sequence analysis of the entire coding region
Combined Mito Genome Plus Mito Focused Nuclear Gene Panel GeneDx United States	1	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Encoded Mitochondrial Disorders Panel CGC Genetics Unilabs Portugal	1	306	C Sequence analysis of the entire coding region
Metabolic Diseases Panel CGC Genetics Unilabs Portugal	1	837	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	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.