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Results: 1 to 20 of 48 (representing 23 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
3026
  • C Sequence analysis of the entire coding region

Congenital Myopathy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
2517
  • D Deletion/duplication analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Nemaline Myopathy Panel (7 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
97
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MyoGene Panel (43 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
10143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Panel (14 Genes)

Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine)
United States
2714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nemaline Myopathy NEB Triplicate Repeat Region, Exons 82-105

PreventionGenetics
United States
11
  • E Sequence analysis of select exons

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
9988
  • C Sequence analysis of the entire coding region

Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nemaline Myopathy Sequencing Panel

PreventionGenetics
United States
1010
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Sequencing Panel

PreventionGenetics
United States
3029
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Nemaline Myopathy via the NEB exon 55 deletion

PreventionGenetics
United States
11
  • T Targeted variant analysis

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
2621
  • C Sequence analysis of the entire coding region

Distal Myopathy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
3117
  • C Sequence analysis of the entire coding region

NEB-Related Nemaline Myopathy, 1 Variant

ARUP Laboratories, Molecular Genetics and Genomics
United States
11
  • T Targeted variant analysis

Results: 1 to 20 of 48

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.

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