Clinical and research tests for C1832918 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ATP2A1 - 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 Invitae United States	202	128	D Deletion/duplication analysis
Brody myopathy, 601003, Autosomal recessive (Brody myopathy) (ATP2A1 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
Brody myopathy, 601003, Autosomal recessive (Brody myopathy) (ATP2A1 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
SRL - Brody myopathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
ATP2A1 - Brody myopathy Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States	106	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States	183	142	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Myopathy Panel Invitae United States	143	70	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Brody myopathy: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Congenital Myopathy NGS Panel Fulgent Genetics United States	186	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brody Myopathy (ATP2A1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nondystrophic Myotonia NGS Panel Fulgent Genetics United States	35	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	233	144	C Sequence analysis of the entire coding region
Myotonic Syndrome Advanced Evaluation Athena Diagnostics United States	9	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Rhabdomyolysis & Metabolic Myopathies NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	46	47	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.