Min, minimum; Max, maximum.

*Results for unknown NF1 samples, non-deleted negative controls, and deleted positive controls are expressed in N-fold changes in NF1 gene copies, normalised to ZNF80 relative to the copy number of the NF1 gene in the calibrator, according to the following equation: amount of target  = 2^−ΔΔCt.34

The ΔΔCt calculation used for the relative quantification of target was as follows: ΔΔCt  =  (Ct, target NF1 exon – Ct, ZNF80)χ–(Ct, target NF1 exon–Ct, ZNF80)y, where χ  = unknown NF1 sample (†), nondeleted negative control (‡) or deleted positive control (§), and y  =  calibrator.