Clinical and research tests for C1836439 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 56

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
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
Mitochondrial Genome Maintenance/Integrity Nuclear Genes Panel PreventionGenetics, part of Exact Sciences United States	27	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PEO Panel by Massively Parallel Sequencing Baylor Genetics United States	18	10	C Sequence analysis of the entire coding region
mtDNA Depletion/Integrity Panel by Massively Parallel Sequencing Baylor Genetics United States	22	17	C Sequence analysis of the entire coding region
C10orf2 (TWINKLE) Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	2	1	T Targeted variant analysis
C10orf2 (TWINKLE) Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
C10orf2 (TWINKLE) Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis
C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Dominant Progressive External Ophthalmoplegia and other C10orf2-Related Disorders via the TWNK/C10orf2 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
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 (sequence analysis of TWNK/ C10orf2 gene) CGC Genetics Unilabs Portugal	1	1	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
Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain	247	156	C Sequence analysis of the entire coding region
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain	89	52	C Sequence analysis of the entire coding region
Neuro-ophthalmology panel. NGS panel of 38 genes. Genologica Medica Spain	75	38	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
Progressive external ophthalmoplegia with mtDNA deletions: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	11	10	C Sequence analysis of the entire coding region
Metabolic Myopathy and Rhabdomyolysis Asper Biogene Asper Biogene LLC Estonia	63	44	C Sequence analysis of the entire coding region
OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL (PEO) Laboratorio de Genetica Clinica SL Spain	5	5	D Deletion/duplication analysis

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Results: 21 to 40 of 56

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.