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Results: 21 to 38 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

MYASTHENIC SYNDROME WITH ACETYLCHOLINESTERASE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Fetal akinesia deformation sequence / congenital myasthenia

Institute of Human Genetics Cologne University
Germany
78
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndromes Panel

Blueprint Genetics
Finland
118
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SYT2

MGZ Medical Genetics Center
Germany
11
  • S Mutation scanning of the entire coding region

Congenital Myasthenic Syndromes and Arthrogryposis Panel

CeGaT GmbH
Germany
944
  • C Sequence analysis of the entire coding region

SNAP25 genetic testing

Neuromuscular Disease Laboratory Mayo Clinic College of Medicine
United States
11
  • C Sequence analysis of the entire coding region

DPAGT1 Sequencing

Neuromuscular Disease Laboratory Mayo Clinic College of Medicine
United States
11
  • S Mutation scanning of the entire coding region

Newborn: Neonatal Apneas

MGZ Medical Genetics Center
Germany
213
  • 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

Congenital Myasthenic Syndrome Panel

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

Congenital myasthenic syndrome ALG14-related

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

CHRNA1-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

CHRND-Related Congenital Myasthenic Syndrome

MGZ Medical Genetics Center
Germany
31
  • C Sequence analysis of the entire coding region

CHRNE-Related Congenital Myasthenic Syndrome

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

DOK7-Related Congenital Myasthenic Syndrome

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

AGRN-Related Congenital Myasthenic Syndrome

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

Results: 21 to 38 of 38

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.