Clinical and research tests for C4755312 - 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
FARS2 - 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
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication 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
Combined oxidative phosphorylation deficiency 14, 614946, Autosomal recessive; COXPD14 (Combined oxidative phosphorylation defect type 14) (FARS2 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 14, 614946, Autosomal recessive; COXPD14 (Combined oxidative phosphorylation defect type 14) (FARS2 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
FARS2 - Combined oxidative phosphorylation deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	2	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
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
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Combined Oxidative Phosphorylation Deficiency 14 via the FARS2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States	144	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Invitae United States	98	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FARS2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
FARS2 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
FARS2 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
FARS2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis 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.