Clinical and research tests for MYH7 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 232

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Myopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	20	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal Myopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal Myopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Nonsyndromic Congenital Heart Disease Panel PreventionGenetics, part of Exact Sciences United States	54	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiomyopathy, dilated, 1S, 613426, Autosomal dominant; CMD1S (Familial isolated dilated cardiomyopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cardiomyopathy, hypertrophic, 1, 192600, Autosomal dominant (MYH7 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
Cardiomyopathy, hypertrophic, 1, 192600, Autosomal dominant (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Cardiomyopathy, dilated, 1S, 613426, Autosomal dominant; CMD1S (Familial isolated dilated cardiomyopathy) (MYH7 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
Laing distal myopathy, 160500, Autosomal dominant; MPD1 (Laing early-onset distal myopathy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Laing distal myopathy, 160500, Autosomal dominant; MPD1 (Laing early-onset distal myopathy) (MYH7 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
Laing distal myopathy, 160500, Autosomal dominant; MPD1 (Laing early-onset distal myopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Laing distal myopathy, 160500, Autosomal dominant; MPD1 (Laing early-onset distal myopathy) (MYH7 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
Left ventricular noncompaction 5, 613426, Autosomal dominant (Left ventricular noncompaction) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Left ventricular noncompaction 5, 613426, Autosomal dominant (Left ventricular noncompaction) (MYH7 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
Scapuloperoneal syndrome, myopathic type, 181430, Autosomal dominant; SPMM (MYH7-related late-onset scapuloperoneal muscular dystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Scapuloperoneal syndrome, myopathic type, 181430, Autosomal dominant; SPMM (MYH7-related late-onset scapuloperoneal muscular dystrophy) (MYH7 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, myosin storage, autosomal dominant, 608358, Autosomal dominant; MSMA (Hyaline body myopathy) (MYH7 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, myosin storage, autosomal recessive, 255160, Autosomal recessive; MSMB (Hyaline body myopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis

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Results: 21 to 40 of 232

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