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Results: 61 to 79 of 79

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myopathy and Distal Myopathy NGS panel

Asper Biogene Asper Biogene LLC
Estonia
7841
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MYOTUBULAR / CENTRONUCLEAR MYOPATHY (X-LINKED)

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

Congenital Myopathy Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
2619
  • C Sequence analysis of the entire coding region

NEMALINE MYOPATHY

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
77
  • C Sequence analysis of the entire coding region

X-linked centronuclear myopathy

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

Single gene testing MTM1

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Congenital and Distal Myopathies Panel

CeGaT GmbH
Germany
4973
  • C Sequence analysis of the entire coding region

MTM1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID (X-Linked Intellectual Disability) NGS Panel

Fulgent Genetics
United States
162117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular NGS Panel

Fulgent Genetics
United States
259112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myotubular myopahy, X-linked: MTM1 gene deletions-duplications analysis (MLPA)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • D Deletion/duplication analysis

Myotubular myopahy, X-linked: MTM1 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

X-Linked Centronuclear Myopathy

MGZ Medical Genetics Center
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myotubular Myopathy, X-linked: MTM1 Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Centronuclear Myopathy, all

Beggs Laboratory - Congenital Myopathy Research Program Boston Children's Hospital
United States
57
  • C Sequence analysis of the entire coding region

X-Linked Myotubular Myopathy

Beggs Laboratory - Congenital Myopathy Research Program Boston Children's Hospital
United States
11
  • C Sequence analysis of the entire coding region

Results: 61 to 79 of 79

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.