NGS for neuromuscular diseases, LGMD, CMT, FAOD
基因 :
Charcot-Marie-Tooth 氏症 CMT (68 genes):
AARS, AIFM1, ARHGEF10, ATP1A1, BICD2, BSCL2, COX6A1, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DYNC1H1, EGR2, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, JPH1, KARS, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MICAL1, MME, MORC2, MPZ, MTMR2, NDRG1, NEFH, NEFL, PDK3, PLEKHG5, PMP2, PMP22, PRPS1, PRX, RAB7A, SBF1, SBF2, SH3TC2, SLC12A6, SPG11, SURF1, TDP1, TFG, TRIM2, TRPV4, TUBA8, YARS, VCP
肢帶型肌肉失養症 LGMD
(41 genes):
AMPD1, ANO5, CAPN3, COL6A1, COL6A2, COL6A3, DAG1, DNAJB6, DYSF, FKRP, GAA (include IVS1-13), GMPPB, HNRNPDL, ISPD, ITGA7, LAMA2, LARGE, LIMS2, MYOT, PLEC, PNPLA2, POMGNT1, POMK, POMT1, POMT2, SEPN1, SGCA, SGCB, SGCG, SMCHD1, TNPO3, TRAPPC11, TRIM32, CAV3, DES, FKTN, SGCD, TCAP, TTN, POGLUT1, BVES
裘馨氏肌肉失養症 DMD (1 gene):
DMD
先天性肌失養症 CMD(68 genes):
ABHD5, ACAT1, ACTA1, ACVR1, AGRN, ALG13, ALG14, ALG2, B3GALNT2, BIN1, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CLCN1, CNTN1, COLQ, DMPK, DOK7, FHL1, FLNC, GBE1, GFPT1, GYG1, HNRPDL, HSPG2, ISCU, KBTBD13, KLHL40, KLHL41, KLHL9, LAMB2, LDHA, LMOD3, MATR3, MEGF10, MSTN, MTM1, PTPLA (HACD1), PTRF, RAPSN, RBCK1, SLC25A20, SPEG, STAC3, STIM1, SYNE1, SYNE2, TIA1, TMEM43, TNNT1, TOR1AIP1, TPM2, TPM3, TRIM3, TRIM63, COL12A1, NEB, PABPN1, POMGNT2(GTDC2), RYR1, TMEM5, EMD, GNE
脂肪酸氧化障礙/橫紋肌溶解症FAOD/Rhabdomyolysis
(21 genes):
ACAD9, ACADL, ACADM, ACADVL, CPT1A, CPT1B, CPT2, ETFA, ETFB, ETFDH, GYS1, HADHA, HADHB, LPIN1, PFKM, PGAM2, PGM1, PHKA1, PYGM, SLC22A5, TYMP
肌張力異常 Dystonia (28 genes):
ACTB, ALDH7A1, ANO3, ATM, ATP1A3, CIZ1, DBH, DDC, GCDH, GCH1, GNAL, PAH, PNKD, PNPO, PRKRA, PRRT2, PTS, QDPR, SGCE, SLC18A2, SLC2A1, SLC6A3, SPR, TAF1, TH, THAP1, TOR1A, TUBB4A
檢驗單位 : 臺大醫院生化遺傳檢驗室
檢驗週數 : 12
檢驗費用 : 30000
補助單位 :
補助金額 :
自費金額 :
檢驗單位地址 : 10041 台北市中正區中山南路8號19樓19004室 臺大醫院 基因醫學部
聯絡人 : (02)23123456 分機 71966 吳慧璿小姐
付費方式 : 銀行:合作金庫臺大分行(銀行代號 006) 帳號:1346-713-100100 戶名:臺大醫院作業基金401專戶 *請回傳『ATM轉帳單』、『個案姓名』及『代檢疾病項目』。 傳真:02-23314518並致電 02-23123456轉71939確認是否收到。
實驗室網站 : https://www.ntuh.gov.tw/gene-lab-bclab/Fpage.action?muid=4734&fid=5251
疾病資訊 : 次世代定序神經肌肉疾病相關基因變異檢測
更新日期 : 2018-08-01