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Results: 21 to 37 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital myasthenic syndromes panel. 18-gene NGS panel.

Genologica Medica
Spain
3818
  • C Sequence analysis of the entire coding region

Central hypoventilation and apnea panel. NGS panel of 15 genes.

Genologica Medica
Spain
3715
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndromes (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
2622
  • C Sequence analysis of the entire coding region

RAPSN Prenatal Sequence Analysis (GeneAware) (Prenatal Sequence Analysis)

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

Myastenia Syndrome Panel, Congenital

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
2915
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
3125
  • C Sequence analysis of the entire coding region

Congenital Myasthenic Syndrome

Asper Biogene Asper Biogene LLC
Estonia
4623
  • C Sequence analysis of the entire coding region

Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes

Reference Laboratory Genetics
Spain
159111
  • C Sequence analysis of the entire coding region

Congenital Myasthenia , Panel Massive Sequencing (NGS) 12 Genes

Reference Laboratory Genetics
Spain
1812
  • C Sequence analysis of the entire coding region

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

MYASTHENIC SYNDROME WITH RAPSYN DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
11
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
233144
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Genetics
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myasthenic Syndrome Advanced Sequencing Evaluation

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

Congenital myasthenic syndrome

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

Results: 21 to 37 of 37

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.