Laboratory diagnosis of genetic disorders.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis; D000596:Amino Acids / Q000097:blood / Q000378:metabolism / Q000652:urine; D001692:Biological Transport; D001706:Biopsy; D002845:Chromatography; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D004796:Clinical Enzyme Tests; D003582:Cytogenetics; D005347:Fibroblasts / Q000201:enzymology; D005456:Fluorescent Dyes; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics; D012728:Sex Chromatin / Q000032:analysis; D012730:Sex Chromosomes / Q000032:analysis; D012867:Skin / Q000201:enzymology
D000596:Amino Acids; D005456:Fluorescent Dyes