Real-time PCR for prenatal diagnosis of monogenic diseases caused by single nucleotide changes – the example of the hemoglobinopathies

doi:10.4324/9780203967317-26

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Real-time PCR for prenatal diagnosis of monogenic diseases caused by single nucleotide changes – the example of the hemoglobinopathies

ABSTRACT

Without doubt, the provision of PND requires the highest standards in laboratory practice to minimize sources of potential errors and ensure an accurate result. Based on more than two decades of experience, a general consensus has been reached on the precautionary measures to minimize risk of diagnostic errors (Old et al., 2000; Traeger-Synodinos et al., 2002).