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Results: 61 to 78 of 78

Tests names and labsConditionsGenes, analytes, and microbesMethods

RAPSN Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MUSK Single Gene

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

GFPT1 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHRNB1 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CHRNE Single Gene

Fulgent Genetics
United States
31
  • 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

MUSK

MGZ Medical Genetics Center
Germany
11
  • 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

Neuromuscular NGS Panel

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

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Myasthenic syndrome

MedGene
Slovakia
11
  • E Sequence analysis of select exons

Myasthenic syndrome, congenital

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Myasthenic syndrome

Praxis fuer Humangenetik Wien
Austria
11
  • E Sequence analysis of select exons

GFPT1-Related Congenital Myasthenic Syndrome

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

CHRNB1-Related Congenital Myasthenic Syndrome

MGZ Medical Genetics Center
Germany
21
  • C Sequence analysis of the entire coding region

RAPSN-Related Congenital Myasthenic Syndrome

MGZ Medical Genetics Center
Germany
21
  • E Sequence analysis of select exons

CHRNE-Related Congenital Myasthenic Syndrome

MGZ Medical Genetics Center
Germany
41
  • C Sequence analysis of the entire coding region

Results: 61 to 78 of 78

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.