[Screening of symptom poor hereditary disorders in clinical laboratories].
Detection of symptom poor hereditary disorders from laboratory data is one of the targets of the laboratory data analysis system. Symptom poor hereditary disorders include; 1) pharmacogenetic disorders, 2) heterozygous individuals of hereditary disorders, 3) early or symptomless stage of hereditary disorders and 4) primary symptom poor hereditary disorders. The following cases of pseudocholinesterase silent gene variants, lactate dehydrogenase M and H subunit deficiencies, heterozygous individuals of aphosphatasia and Xanthinuria were screened from the laboratory data analysis system for hereditary disorders. The characteristics of the laboratory data, and clinical features of these symptom poor hereditary disorders were described and discussed.
Department of Laboratory Medicine, Hamamatsu University, School of Medicine.
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Kanno
D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D005820:Genetic Testing; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000172:deficiency
D007770:L-Lactate Dehydrogenase