5’ dTP-PCR

GM04738 (NL male, 30 rpts)

NA20244 (NL male, 41 rpts)

GM06891 (PM male)

GM07862 (FM male)

Normal male blood spot

+ NA20244 (NL male, 41 rpts)

+ GM06891 (PM male)

+ GM07862 (FM male)

70 72 74 76 78 80 82 84 86 88 90 92 94

Temperature (°C)

-dF/dT 85 °C

70 72 74 76 78 80 82 84 86 88 90 92 94

Temperature (°C)

-dF/dT 90 °C

3’ dTP-PCR

GM04738 (NL male, 30 rpts)

NA20244 (NL male, 41 rpts)

GM06891 (PM male)

GM07862 (FM male)

Normal male blood spot

+ NA20244 (NL male, 41 rpts)

+ GM06891 (PM male)

+ GM07862 (FM male)

A

B

Supplemental Figure 5: (A) Melt peaks of blood spots from a normal male mixed with genomic DNA from NA20244 (41 repeat male), GM06891 (premutation male) and GM07862 (full mutation male); (B) Melt peaks from male genomic DNA samples GM04738 (30 repeats), NA20244 (41 repeats), GM06891 (premutation) and GM07862 (full mutation).