Clinical and research tests for C0017919 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
Comprehensive Arrhythmia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	36	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Arrhythmogenic Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	26	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy and Arrhythmia Panel Mayo Clinic Laboratories Mayo Clinic United States	73	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	68	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	44	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	116	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glycogen Storage Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
PGM1 Institute of Human Genetics Medical University Innsbruck Austria	3	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
Glycogen Storage Disorders Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	40	32	C Sequence analysis of the entire coding region
Glycogen Storage Disease Type1A (Von Gierke) Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
PGS.pharma Diagnosticum Center for Human Genetics Germany	18	12	T Targeted variant analysis
Glycogen Storage Disease and Gluconeogenesis Sequencing Panel Dep. of Paediatrics and Inherited Metabolic Disorders General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague Czech Republic	3	29	C Sequence analysis of the entire coding region
Metabolic Liver Failure Panel Blueprint Genetics Finland	14	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Phosphorylase Kinase Deficiency: gene deletion/duplication panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	2	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.