Clinical and research tests for C4310675 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
NAXE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186, Autosomal recessive; PEBE (NAXE 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
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186, Autosomal recessive; PEBE (NAXE 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
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	289	481	C Sequence analysis of the entire coding region
NAXE Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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