Clinical and research tests for 611332 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Achondroplasia , Hypochondroplasia , Thanatophoric dysplasia types I and II , Muenke's syndrome (deletion / duplication analysis on FGFR3 gene) CGC Genetics Unilabs Portugal	1	1	D Deletion/duplication analysis
DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Distal Weakness Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	216	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
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
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
DNAJB6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	202	128	D Deletion/duplication analysis
Limb girdle muscular dystrophy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	50	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Myopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Limb girdle muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	50	35	C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	19	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	19	11	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Myopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Myopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Myofibrillar myopathy and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	19	11	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.