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Individuals screened at the NHLS Human Genetics laboratory in Bloemfontein between 1998 and 2020, using a combination of investigative methods ranging from targeted genotyping to comprehensive screening. The numbers screened together with the success rates are indicated. Pos, positives; neg, negatives; HRMA, high resolution melting analysis; NGS, next-generation sequencing; MLPA, multiplex ligation-dependent probe amplification.
