Page 116 - รายงานประจำปี ๒๕๖๑-๖๒ คณะแพทยศาสตร์ มหาวิทยาลัยสงขลานครินทร์

'Vl
1fl-a~m-a-a::uuii1 a1-aau b A'Vl1~n1-a bb rm tl
1r11~nT'H~:wtJ 2019 ~~~1m.h~(9111'olA17:W~~1.Jn~m~'w't.mm1:w (whole exome) 11:w 31 ~1m.h~ m1'ol1U'olQtJ'lJfl:W~
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A11:w~~1.Jn~'llfl~flu ~ti1tJ'VleJ~'Vl1~'w'wm11:w 1iJ'ol,fo1~ 11 hr1'Vl1~'w'ufim1:w
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•
• HNPCC family • CRC with MSI
• Disorder of sexual development • Neurofibromatosis
• CRC with AFC mutation • Urea cycle defect
• Benign familial neonatal seizures 1 • Abnormal glycosylation

• 17-20 Lyase deficiency • Juvenile polyposis syndrome
• Progressive familial intrahepatic cholestasis

2 m1tieJ~1i61'W'Wfim1:w1Juflu (Whole Exome Sequencing)
'
3 n71(9111'ol'Vl71Pl7bb'Vl'W~ Target gene Sequencing

4 m1m1'ol'Vl71Pl7bb'Vl'W~ Direct Sequencing

s1uJ1ulJs:j1~nru_=11wnum~n~ I 2~ _ ~ 1 117
uH1Jnu1nunvun1unsuns 61 2 62