Laboratory Issues

As discussed in this chapter, molecular genetic testing for metabolic disorders is used primarily as a follow-up to biochemical analyses for confirmation of findings, prognosis, carrier screening, or prenatal testing. Readers interested in learning which laboratories perform individual tests should refer to the GeneClinics Web site (http://www.geneclinics.org), which includes a listing of laboratories certified by the Clinical Laboratory Improvement Amendments (CLIA). As testing for many of these disorders is performed in only a few laboratories, commercial test kits and proficiency testing is limited. Proficiency testing for TSD is available through the California Tay-Sachs Disease Prevention Program. For other disorders, interlaboratory exchange of samples is common practice. Several companies have developed assays for a panel of Ashkenazi Jewish disorders that include TSD, CD, and most likely GD among others. As mutation scanning methods become more routine,molecular testing for metabolic disorders may become more commonplace.

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