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Results: 21 to 40 of 84

Tests names and labsConditionsGenes, analytes, and microbesMethods

Myotubular myopathy, X-linked, 310400, X-linked recessive; CNMX (X-linked centronuclear myopathy) (MTM1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Myotubular myopathy, X-linked, 310400, X-linked recessive; CNMX (X-linked centronuclear myopathy) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Myotubular myopathy, X-linked, 310400, X-linked recessive; CNMX (X-linked centronuclear myopathy) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Myotubular myopathy, X-linked, 310400, X-linked recessive; CNMX (X-linked centronuclear myopathy) (MTM1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
482254
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
247301
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Myotubular Myopathy

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

PreventionGenetics
United States
184142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Myopathy Panel

Invitae
United States
14570
  • D Deletion/duplication analysis

Invitae Congenital Myopathy Panel

Invitae
United States
5936
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
355208
  • D Deletion/duplication analysis

X-Linked Intellectual Disability Panel

PreventionGenetics
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MTM1. Complete sequencing

IGENOMIX
Spain
11
  • C Sequence analysis of the entire coding region

Congenital Myopathy Panel

PreventionGenetics
United States
5841
  • 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
240171
  • 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

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

X-linked intellectual disability panel. 99-gene NGS panel.

Genologica Medica
Spain
14399
  • C Sequence analysis of the entire coding region

Nemaline myopathy panel. NGS panel of 11 genes.

Genologica Medica
Spain
1511
  • C Sequence analysis of the entire coding region

MTM1 MLPA Duplication/Deletion Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
11
  • D Deletion/duplication analysis

Results: 21 to 40 of 84

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.