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Results: 1 to 20 of 26 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

Congenital Myasthenic Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1119
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
119111
  • C Sequence analysis of the entire coding region

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Endplate acetylcholinesterase deficiency

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
913
  • D Deletion/duplication analysis

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COLQ. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Sequencing Panel

PreventionGenetics
United States
1115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myasthenic Syndrome via the COLQ Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Synaptic Myasthenia , Sequencing COLQ Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Neuromuscular Comprehensive Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
454305
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenia Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4321
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation

Athena Diagnostics Inc
United States
1713
  • C Sequence analysis of the entire coding region

Invitae Congenital Myasthenic Syndrome Panel

Invitae
United States
2013
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
141104
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myasthenic

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2012
  • C Sequence analysis of the entire coding region

Endplate acetylcholinesterase deficiency

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

Myasthenic syndrome, congenital (NGS panel for 17genes)

CGC Genetics
Portugal
1217
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndromes and Arthrogryposis Panel

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

COLQ

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

Results: 1 to 20 of 26

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.

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