Clinical and research tests for C0026850 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Muscular Dystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Genomic Unity Neuromuscular Disorders Analysis (includes STR analysis of CNBP, DMPK, GIPC1, LRP12, RFC1 and VWA1 genes). Variantyx, Inc. United States	5	3	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Genomic Unity Muscular Dystrophy Analysis Variantyx, Inc. United States	4	51	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myopathy & Muscular Dystrophy Panel GeneDx United States	2	40	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular disorders - different panels Institute of Human Genetics Cologne University Germany	16	474	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Inclusion Body Myopathy NGS Panel Fulgent Genetics United States	21	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuronal Migration Disorders NGS Panel Fulgent Genetics United States	392	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Cortical Malformation NGS Panel Fulgent Genetics United States	210	42	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Muscular Dystrophy / Myopathy Panel Blueprint Genetics Finland	2	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TNPO3 Single Gene Fulgent Genetics United States	16	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POMK Single Gene Fulgent Genetics United States	56	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNRNPA2B1 Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNRNPA1 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
B4GAT1 Single Gene Fulgent Genetics United States	45	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GMPPB Single Gene Fulgent Genetics United States	49	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Myasthenic Syndrome NGS Panel Fulgent Genetics United States	105	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dystroglycan-Related Congenital Muscular Dystrophy NGS Panel Fulgent Genetics United States	67	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular NGS Panel Fulgent Genetics United States	259	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis NGS Panel Fulgent Genetics United States	84	43	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.