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Results: 1 to 20 of 79

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myopathy Panel

Genetic Services Laboratory University of Chicago
United States
3143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cardiomyopathy and Arrhythmia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
73105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6883
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
4448
  • 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
10061
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MYH7 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • D Deletion/duplication analysis

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Genetic Health Screen

Invitae
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Invitae
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Invitae
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCMFirst® reflex HCMNext®

Ambry Genetics
United States
5830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HCMNext®

Ambry Genetics
United States
5830
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DCMNext®

Ambry Genetics
United States
10037
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CustomNext-Cardio®

Ambry Genetics
United States
236167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 79

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.