Abstract
1.6 Analytical methods Sequencing of all PTCH1 exons and their intron–exon boundaries,1 MLPA, QMP (Quantitative Multiplex fluorescent PCR) or array-CHG for deletions spanning the whole gene.2,3 Based on the type of mutations most frequently detected,1 start with sequencing (point mutations) followed by MLPA, QMP or array-CHG (large mutations). In patients who test negative for mutations in PTCH1, promoter analysis, testing of SUFU4 and PTCH25 may be considered. The detection specificity of sequencing is almost 100% for point mutations and small deletions and insertions. MLPA, QMP or arrayCHG are applicable only for exon-spanning mutations (o5% of all mutations), the detection specificity is 95–100%. Pathogenicity of missense PTCH1 alterations is verified by testing a set of 100 controls (200 chromosomes) and by in silico prediction methods.
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