In eight studies, we genotyped the deltaF508 mutation for cystic fibrosis, the K340E mutation for medium-chain-acyl-Co-A-dehydrogenase deficiency, the three most common phenylketonuria mutations in the UK (rs5030861, rs5030858 and rs75193786 (T to C mutation)) and lastly rs28929474 and rs17580 representing PI-Z and PI-S alleles, respectively, to infer AAT PI genotypes. The gene discussed is SERPINA1; the disease is phenylketonuria.