Clinical and research tests for C4518839 - Genetic Testing Registry (GTR) - NCBI

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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
AARS2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	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
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
Combined oxidative phosphorylation deficiency 8, 614096, Autosomal recessive; COXPD8 (Combined oxidative phosphorylation defect type 8) (AARS2 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 8, 614096, Autosomal recessive; COXPD8 (Combined oxidative phosphorylation defect type 8) (AARS2 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, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
AARS2 - Combined oxidative phosphorylation deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Leukoencephalopathy, Progressive, with Ovarian Failure via the AARS2 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
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
AARS2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
AARS2 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
AARS2 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
AARS2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
AARS2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	2	1	D Deletion/duplication analysis
Mitochondrial genome sequencing Molecular Vision Laboratory United States	526	339	C Sequence analysis of the entire coding region
AARS2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	145	134	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

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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.