Clinical and research tests for 120220 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ATP6AP2 Gene Parkinsonism with spasticity, X-linked NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
COL6A1 Gene Bethlem myopathy NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
COL6A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	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
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Bethlem myopathy & Ullrich congenital muscular dystrophy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Bethlem myopathy & Ullrich congenital muscular dystrophy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Bethlem myopathy & Ullrich congenital muscular dystrophy NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	4	C Sequence analysis of the entire coding region T Targeted variant analysis
Ullrich congenital muscular dystrophy 1, 254090, Autosomal recessive, Autosomal dominant (Congenital muscular dystrophy, Ullrich type) (COL6A1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Ullrich congenital muscular dystrophy 1, 254090, Autosomal recessive, Autosomal dominant (Congenital muscular dystrophy, Ullrich type) (COL6A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	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.