Clinical and research tests for C1833511 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 98

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	143	70	D Deletion/duplication analysis
Invitae Fatty Acid Oxidation Defects Panel Labcorp Genetics (formerly Invitae) LabCorp United States	28	25	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Invitae Dilated Cardiomyopathy and Left Ventricular Noncompaction Panel Labcorp Genetics (formerly Invitae) LabCorp United States	134	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	198	82	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	239	100	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypertrophic Cardiomyopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	69	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fatty Acid Oxidation Panel (MitomeNGS) Baylor Genetics United States	16	17	C Sequence analysis of the entire coding region
CPT2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CPT2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	4	1	T Targeted variant analysis
CPT2 Sequence Analysis Baylor Genetics United States	4	1	C Sequence analysis of the entire coding region T Targeted variant analysis
CPT2 Deletion/Duplication Analysis Baylor Genetics United States	4	1	D Deletion/duplication analysis
Acylcarnitine Analysis - Plasma Baylor Genetics United States	23	27	A Analyte
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	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
Hyperammonemia and urea cycle disorders panel. 48-gene NGS panel. Genologica Medica Spain	49	48	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.

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Results: 21 to 40 of 98

Results: 21 to 40 of 98