DNA testing is available for the following groups of disorders:
- Peroxisomal defects (PDs)
- Mitochondrial fatty acid oxidation disorders (FAOD)
- Cholesterol/isoprenoid synthesis defects
- Amino acid degradation defects
- Purine and pyrimidine metabolism defects
- Carbohydrate metabolism defects
- Organic acidurias
- Urea cycle defects
- Neurotransmitter defects
- Hyperoxaluria
- Sjögren-Larsson syndrome