Miami Genetics Laboratory

Biochemical Genetic Testing

Biochemical genetic testing is available to support newborn screening, and diagnosis and ongoing treatment of metabolic disorders

Available biochemical genetic tests include:

  • Acylcarnitine
  • Biotinidase
  • Carnitine plasma and urine
  • CSF amino acids
  • Homocysteine
  • Lactate
  • Plasma amino acids
  • Plasma Carnitine
  • Pyruvate
  • Urine organic acids
  • Urine Succnylacetone

Biochemical Genetic Sample Collection Manual

Infomation on the collection of:
Blood Biotinidase
Blood Amino Acids
Urine Organic Acids
Plasma Acylcarnitine
Plasma Total and Free Carnitine