Clinical and research tests for 615917 - 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
Combined oxidative phosphorylation deficiency 20, 615917, Autosomal recessive; COXPD20 (Combined oxidative phosphorylation deficiency type 20) (VARS2 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
Combined oxidative phosphorylation deficiency 20, 615917, Autosomal recessive; COXPD20 (Combined oxidative phosphorylation deficiency type 20) (VARS2 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
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
VARS2 - 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
CentoMito Comprehensive Panel Centogene AG - the Rare Disease Company Germany	406	414	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany	451	452	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany	442	443	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	394	319	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
VARS2 - Combined oxidative phosphorylation deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Optic Atrophy and Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	98	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
General panel of metabolic myopathies Genologica Medica Spain	114	110	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
Combined oxidative phosphorylation deficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	39	39	C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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