Clinical and research tests for C4225153 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 106

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Comprehensive Glycogen Storage Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	37	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	239	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	376	266	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	209	145	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
POLG Sequence Analysis Baylor Genetics United States	5	1	C Sequence analysis of the entire coding region T Targeted variant analysis
POLG Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	5	1	T Targeted variant analysis
POLG Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis
POLG Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POLG-Related Mitochondrial Disorders via the POLG Gene PreventionGenetics, part of Exact Sciences United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
POLG Institute for Human Genetics University Medical Center Freiburg Germany	5	1	C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 106

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.