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Results: 21 to 26 of 26

Tests names and labsConditionsGenes, analytes, and microbesMethods

Phosphorylase Kinase Deficiency: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
14
  • C Sequence analysis of the entire coding region

Glycogen Storage Disorder Panel

Blueprint Genetics
Finland
229
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders and Mucopolysaccharidosis Panel

Blueprint Genetics
Finland
15102
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Myopathy and Rhabdomyolysis Panel

Blueprint Genetics
Finland
452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metabolic Myopathies Panel

CeGaT GmbH
Germany
2644
  • C Sequence analysis of the entire coding region

ALDOA Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 21 to 26 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.