Biochemical diagnosis can be performed on a variety of tissues including blood
[plasma, wbc], urine and/or skin fibroblasts. Molecular diagnosis in clinical testing labs is available
for all disorders. Prenatal diagnosis of most lysosomal disorders can be done by enzymatic, molecular
testing or EM of amniocytes/chorionic villus samples. Newborn screening panels are being expanded to
include many of the lysosomal disorders as highly sensitive technologies, able to analyze small amounts
of sample, have been developed. Genetic counseling is essential to assist patients and their families
with an understanding of the genetic mode of inheritance, genetic risk analysis, disease education and
supportive counseling.
