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Results: 81 to 89 of 89

Tests names and labsConditionsGenes, analytes, and microbesMethods

Muscle Disease with Ptosis / External Ophthalmoplegia

MGZ Medical Genetics Center
Germany
326
  • C Sequence analysis of the entire coding region

Newborn: “Floppy Infant “

MGZ Medical Genetics Center
Germany
673
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome (CMS)

MGZ Medical Genetics Center
Germany
117
  • C Sequence analysis of the entire coding region

COLQ Single Gene

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

Congenital Myasthenic Syndrome NGS Panel

Fulgent Genetics
United States
10528
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • 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

Congenital Myasthenic Syndrome Panel

FirmaLab
United States
19
  • C Sequence analysis of the entire coding region

COLQ-Related Congenital Myasthenic Syndrome

MGZ Medical Genetics Center
Germany
11
  • C Sequence analysis of the entire coding region

Results: 81 to 89 of 89

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.