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Results: 1 to 20 of 54

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
1117
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency

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

Myasthenic syndrome, congenital

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

Myasthenic syndrome, congenital

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

Myasthenic syndrome associated with acetylcholine receptor 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

CHRNA1, CHAT, CHRNE, RAPSN, DOK7, COLQ. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
16
  • C Sequence analysis of the entire coding region

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • C Sequence analysis of the entire coding region

DOK7. Complete sequencing

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

CHRNE. Complete sequencing

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

RAPSN. 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

Rapsyn-Related Disorders via the RAPSN Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myasthenic Syndrome via the MUSK Gene

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

Congenital Myasthenic

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

Neuromuscular Disorders Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
9988
  • C Sequence analysis of the entire coding region

CarrierMap

Recombine
United States
299297
  • T Targeted variant analysis

Myasthenic congenital syndrome (sequence analysis of CHRNE gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Single gene testing CHRNB1

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 54

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