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Results: 161 to 177 of 177

Tests names and labsConditionsGenes, analytes, and microbesMethods

GAA Single Gene

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

Hypertrophic Cardiomyopathy NGS Panel

Fulgent Genetics
United States
37586
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GAA

MGZ Medical Genetics Center
Germany
11
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular NGS Panel

Fulgent Genetics
United States
280112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy-Rhabdomyolysis NGS Panel

Fulgent Genetics
United States
3729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Comprehensive Cardiovascular NGS Panel

Fulgent Genetics
United States
696250
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glycogen storage disease II (Pompe)

Praxis fuer Humangenetik Wien
Austria
11
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
13198
  • C Sequence analysis of the entire coding region

Metaboseq Gene Sequencing Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
5755
  • C Sequence analysis of the entire coding region

alpha-glucosidase

Lysosomal Diseases Testing Laboratory Thomas Jefferson University
United States
11
  • E Enzyme assay

Pompe disease

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • C Sequence analysis of the entire coding region

GAA Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Lysosomal Storage Disorders

Revvity Omics Revvity
United States
75
  • A Analyte

Results: 161 to 177 of 177

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.