Children's Hospital Colorado
Tests and Evaluations
Tests and Evaluations

Commonly Ordered Genetic Tests

Denver Genetic Laboratories at Children's Hospital Colorado provides the following genetic testing and services:

Molecular Genetics:

  • Cystic Fibrosis
  • Fragile X syndrome
  • Glutaric Acidemias types 1, 2 and 3
  • Expertise in pigmentation disorders, OCA1-4, X-linked OA and Hermansky Pudlak syndromes types 1-10

Biochemical Genetics:

  • Quantitative testing for orotic acid, methylmalonic acid, or succinylacetone using isotope dilution GC/MS
  • Quantitative glutaric acid and 3-hydrooxyglutaric acid by isotope dilution GC/MS
  • Quantitative trimethylamine and trimethylamine N-oxide for the diagnosis of trimethylaminuria
  • Enzyme testing for glutaryl-CoA dehydrogenase
  • Enzyme testing for very long-chain acyl-CoA dehydrogenase


  • Testing on skeletal muscle as well as liver, fibroblasts and heart tissue. 
  • Blue native electrophoresis with in-gel mitochondrial enzyme analysis
  • Mitochondrial respiratory chain enzyme assay
  • Glycine cleavage microassay
  • Pyruvate dehydrogenase enzyme assay

Services offered at Denver Genetic Laboratories at Children’s Colorado

*Sorry, but we do not offer DNA paternity testing. 

All required documents can be found on our main page.