Clinical and research tests for C4511963 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Neuromuscular Disorders exome Genetic Services Laboratory University of Chicago United States	115	136	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders Panel Genetic Services Laboratory University of Chicago United States	115	136	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene US, LLC - The Rare Disease Company United States	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene US, LLC - The Rare Disease Company United States	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene US, LLC - The Rare Disease Company United States	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoNeuro Panel Centogene US, LLC - The Rare Disease Company United States	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Epilepsy Panel Centogene US, LLC - The Rare Disease Company United States	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
DAG1 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DAG1 - 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
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	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
Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States	202	128	D Deletion/duplication analysis
Invitae Brain Malformations Panel Invitae United States	247	161	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
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

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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.