Figure 2. Result validation. The G32T mutation was detected by direct sequencing in three Israeli family members with HHCS. DNA samples from all three were also analyzed using the MALDI-TOF technique and were used as positive controls for the G32T mutation. The arrowhead indicates the unextended primer. The bold arrow indicates the wild type allele. The thin arrow indicates the mutated allele. Top panel: A spectrum from a template-free sample (negative control). Middle panel: A spectrum from a patient negative for the mutation. Bottom panel: A spectrum from a subject with HHCS (positive control).