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Results: 1 to 20 of 66

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
3224
  • D Deletion/duplication analysis

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
119111
  • C Sequence analysis of the entire coding region

AllNeuro panel

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

Centronuclear myopathy type 1

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy, centronuclear

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy, centronuclear

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Centronuclear Myopathy

Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital
United States
31
  • C Sequence analysis of the entire coding region

DNM2 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis

Comprehensive Neuromuscular Sequencing Panel

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

MTMR14. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

DNM2. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Centronuclear Myopathy Sequencing Panel

PreventionGenetics
United States
66
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Sequencing Panel

PreventionGenetics
United States
3230
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dynamin-2 Related Disorders via the DNM2 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy and Distal Myopathy NGS panel

Asper Biogene Asper Biogene LLC
Estonia
8341
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15277
  • D Deletion/duplication analysis

Congenital Contractures Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8557
  • C Sequence analysis of the entire coding region

Congenital myopathy (NGS panel of 19 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Congenital myopathy (NGS panel of 19 genes)

CGC Genetics
Portugal
1818
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 66

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