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Results: 1 to 20 of 47

Tests names and labsConditionsGenes and analytesMethods

Congenital Myopathy Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3228
  • D Deletion/duplication analysis

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
3228
  • 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

Nemaline myopathy type 1

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

Comprehensive Neuromuscular Sequencing Panel

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

TPM3. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

TNNT1. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

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

Myopathy, Congenital via TPM3 Gene Sequencing with CNV Detection

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

Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes

Reference Laboratory Genetics
Spain
44
  • C Sequence analysis of the entire coding region

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes

Reference Laboratory Genetics
Spain
163111
  • C Sequence analysis of the entire coding region

Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
76
  • C Sequence analysis of the entire coding region

Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes

Reference Laboratory Genetics
Spain
77
  • C Sequence analysis of the entire coding region

Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
86
  • C Sequence analysis of the entire coding region

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

Neuromuscular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
244144
  • C Sequence analysis of the entire coding region

Nemaline Myopathy, Sequencing TPM3 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 47

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