Clinical and research tests for C1842160 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Myopathy Panel Genetic Services Laboratory University of Chicago United States	31	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cardiomyopathy and Arrhythmia Panel Mayo Clinic Laboratories Mayo Clinic United States	73	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	68	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	44	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pan Cardiomyopathy Panel (62 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	100	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MYH7 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis 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 dominant, 608358, Autosomal dominant; MSMA (Hyaline body myopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Myopathy, myosin storage, autosomal dominant, 608358, Autosomal dominant; MSMA (Hyaline body 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
Myopathy, myosin storage, autosomal dominant, 608358, Autosomal dominant; MSMA (Hyaline body myopathy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Invitae United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Invitae United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Invitae United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HCMFirst® reflex HCMNext® Ambry Genetics United States	58	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HCMNext® Ambry Genetics United States	58	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
DCMNext® Ambry Genetics United States	100	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CustomNext-Cardio® Ambry Genetics United States	236	167	D Deletion/duplication analysis 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.