Clinical and research tests for C0751882 - Genetic Testing Registry (GTR)

Results: 1 to 12 of 12

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Myasthenic Syndrome Panel Genetic Services Laboratory University of Chicago United States	12	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LGMD and CMS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	65	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
Congenital Myasthenia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	28	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
Genomic Unity Neuromuscular Disorders Analysis (includes CNBP, DMPK STR analysis) Variantyx, Inc. United States	5	3	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 300 PLUS Panel Integrated Genetics Westborough LabCorp United States	172	350	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Inheritest High Frequency panel Integrated Genetics Westborough LabCorp United States	109	110	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Congenital Myasthenia Syndromes Panel GeneDx United States	3	19	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
Congenital Myasthenic Syndromes Panel Blueprint Genetics Finland	1	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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: 1 to 12 of 12

Results: 1 to 12 of 12