Clinical and research tests for C1853136 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PNPLA2 - 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
Invitae Comprehensive Lipidemia Panel Invitae United States	33	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States	242	146	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neutral lipid storage disease with myopathy, 610717, Autosomal recessive; NLSDM (Neutral lipid storage myopathy) (PNPLA2 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
Neutral lipid storage disease with myopathy, 610717, Autosomal recessive; NLSDM (Neutral lipid storage myopathy) (PNPLA2 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
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 Muscular Dystrophy Panel Invitae United States	114	52	D Deletion/duplication analysis
Invitae Limb-Girdle Muscular Dystrophy Panel Invitae United States	91	37	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States	353	208	D Deletion/duplication analysis
Limb Girdle Muscular Dystrophy (LGMD) Panel PreventionGenetics, part of Exact Sciences United States	34	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Neutral Lipid Storage Disease with Myopathy via the PNPLA2 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Neutral lipid storage disease with myopathy (sequence analysis of PNPLA2 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Congenital muscular dystrophy and LGMD panel. 42-gene NGS panel. Genologica Medica Spain	96	42	C Sequence analysis of the entire coding region
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	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.