The majority of patients are initially screened by enzyme assay, which is the most efficient method to arrive at a definitive diagnosis. In some families where the disease-causing mutations are known, and in certain genetic isolates, mutation analysis may be performed. In addition, after a diagnosis is made by biochemical means, mutation analysis may be performed for certain disorders.
Lysosomal storage disease
Glycogen storage disease
Neutral lipid storage disease
Lipid storage disorder
Creatine transporter defect
D-bifunctional protein deficiency
Trinucleotide repeat disorder
Hyaluronidase deficiency