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Results: 21 to 40 of 42

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

Arthrogryposis Panel    

GeneDx
United States
15691
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Arthrogryposis NGS Panel

Fulgent Genetics
United States
17560
  • D Deletion/duplication analysis
  • 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

Fetal akinesia deformation sequence / congenital myasthenia

Institute of Human Genetics Cologne University
Germany
78
  • 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

Neuromuscular Disorders NGS Panel

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

Congenital Synaptic Myasthenia , Sequencing COLQ Gene

Reference Laboratory Genetics
Spain
11
  • 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

Endplate acetylcholinesterase deficiency

Bioarray
Spain
11
  • 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 Single Gene

Fulgent Genetics
United States
11
  • 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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 42

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.