Abstract
ConclusionDried urine spots may be helpful for diagnosis where long transit times are inevitable, or confirmation of a suspected diagnosis is all that is required immediately. The collection and dispatch of samples for the more detailed battery of tests essential to confirm the diagnosis can then be set up. Important when patients may be many miles from any hospital and the diagnosis, especially of autosomal recessive disorders will require the screening of asymptomatic siblings. Genetic heterogeneity, both within as well as between families, is a facet of all these disorders1–3.
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