Clinical and research tests for 606768 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (DYSF 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
Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (DYSF 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
Myopathy, distal, with anterior tibial onset, 606768, Autosomal recessive; DMAT (Distal myopathy with anterior tibial onset) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
DOCK8 Gene Hyper-IgE recurrent infection syndrome, autosomal recessive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
DYSF - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Rhabdomyolysis and Metabolic Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	202	128	D Deletion/duplication analysis
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
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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 Labcorp Genetics (formerly Invitae) LabCorp United States	114	52	D Deletion/duplication analysis
Invitae Limb-Girdle Muscular Dystrophy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	91	37	D Deletion/duplication analysis
Invitae Comprehensive Myopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	143	70	D Deletion/duplication analysis
Invitae Comprehensive Neuromuscular Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	353	208	D Deletion/duplication analysis
Limb Girdle Muscular Dystrophy Type 2B and Miyoshi Myopathy via the DYSF Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Neuromuscular Disorders Panel Dhiti Omics Technologies Private Ltd India	16	7	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
Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain	89	52	C Sequence analysis of the entire coding region
Girdle muscular dystrophy. NGS panel of 39 genes. Genologica Medica Spain	84	39	C Sequence analysis of the entire coding region

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