Clinical and research tests for CASQ1 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Rhabdo/Metabolic Myopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	2	83	D Deletion/duplication analysis C Sequence analysis 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
CASQ1 - 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
Myopathy, vacuolar, with CASQ1 aggregates, 616231, Autosomal dominant; VMCQA (Myopathy due to calsequestrin and SERCA1 protein overload) (CASQ1 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, vacuolar, with CASQ1 aggregates, 616231, Autosomal dominant; VMCQA (Myopathy due to calsequestrin and SERCA1 protein overload) (CASQ1 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
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
Neuromuscular Disorders Panel CGC Genetics Unilabs Portugal	17	367	C Sequence analysis of the entire coding region
Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	180	C Sequence analysis of the entire coding region
Neuromuscular Diseases Panel (Expanded) Mendelics Brazil	1	288	C Sequence analysis of the entire coding region
Neuromuscular Diseases Panel (DNAmplo) Mendelics Brazil	1	109	C Sequence analysis of the entire coding region
MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	416	E Sequence analysis of select exons
MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL Laboratorio de Genetica Clinica SL Spain	1	250	E Sequence analysis of select exons
General panel of metabolic myopathies Genologica Medica Spain	114	110	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region

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