Clinical and research tests for C4310735 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 16 of 16

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	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
Portal hypertension, noncirrhotic, 617068, Autosomal recessive (Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency) (DGUOK 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
Portal hypertension, noncirrhotic, 617068, Autosomal recessive (Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency) (DGUOK 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
Portal hypertension, noncirrhotic, 617068, Autosomal recessive (Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Portal hypertension, noncirrhotic, 617068, Autosomal recessive (Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel PreventionGenetics, part of Exact Sciences United States	30	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Purine Metabolism Disorders Panel Invitae United States	26	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial DNA depletion syndrome panel. 25-gene NGS panel. Genologica Medica Spain	50	25	C Sequence analysis of the entire coding region
Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain	88	46	C Sequence analysis of the entire coding region
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	145	134	C Sequence analysis of the entire coding region
Hereditary hepatic diseases (55 genes) Center for Human Genetics Cliniques Universitaires Saint Luc Belgium	36	55	C Sequence analysis of the entire coding region

Results: 1 to 16 of 16

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