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Results: 1 to 20 of 46 (representing 25 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
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

Rapid microarray (CGH and SNP)

Allele Diagnostics
United States
247231
  • D Deletion/duplication analysis
  • H Detection of homozygosity

Myotubular myopathy X-linked

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

MTM1 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • 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

MTM1. 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

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Centronuclear Myopathy, X-Linked via the MTM1 Gene

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

MYOTUBULAR / CENTRONUCLEAR MYOPATHY (X-LINKED)

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • 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

X-Linked Myotubular Myopathy , Deletions-Duplications (MLPA) MTM1 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

X-Linked Myotubular Myopathy , Sequencing MTM1 Gene

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

Neuromuscular Comprehensive Panel

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

Results: 1 to 20 of 46

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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