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Results: 21 to 40 of 170

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • 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
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Myopathy NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
120
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myofibrillar myopathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myofibrillar myopathy and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • 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
120
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Myopathy Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
120
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myofibrillar myopathy and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cardiomyopathy, dilated, 1HH, 613881, Autosomal dominant; CMD1HH (Familial isolated dilated cardiomyopathy) (BAG3 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

Cardiomyopathy, dilated, 1HH, 613881, Autosomal dominant; CMD1HH (Familial isolated dilated cardiomyopathy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Myopathy, myofibrillar, 6, 612954, Autosomal dominant; MFM6 (Muscular dystrophy, Selcen type) (BAG3 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, myofibrillar, 6, 612954, Autosomal dominant; MFM6 (Muscular dystrophy, Selcen type) (BAG3 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, myofibrillar, 6, 612954, Autosomal dominant; MFM6 (Muscular dystrophy, Selcen type) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Myopathy, myofibrillar, 6, 612954, Autosomal dominant; MFM6 (Muscular dystrophy, Selcen type) (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 University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cardio Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
20881
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae 78 Gene Actionable Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
22075
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Targeted Cardiomyopathy panel

Molecular Cardiology Laboratories Istituti Clinici Scientifici Maugeri, IRCCS
Italy
441
  • S Mutation scanning of the entire coding region

DCMNext®

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

Results: 21 to 40 of 170

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.