Mini Sequencing Kits
Disease/Panel Name Gene Name Targeted Region Method UBB Record
Thrombophilia Panel F2, FV Leiden, MTHFR A1298C, MTHFR C677T Mini Sequencing Yes
Cardiovascular Diseases  Panel (CVD) Faktör II protrombin (G20210A), Faktör V (G1691A ve H1299R), Mini Sequencing Yes
MTHFR (C677T ve A1298C), Faktör XIII (V34L), β-Fibrinojen (-455 G-A),
PAI-1 (4G/5G), HPA-1 (a/b), ACE (I/D), ApoB (R3500Q), ApoE (e2/e3/e4)
Familial Mediterranean Fever (FMF) 15 Mutation Panel E148Q, R202Q, P369S, M694V+L, I692del, M694I, K695R+M, Exon 2-3-5-10 Mini Sequencing Yes
V726A, A744S, R761H
ABL1 Imatinib Resistance G250E, Y253H, E255, T315I, F317L, M351T Exon 4-6 Mini Sequencing Yes
Kras 15 Mutation Panel COD12,13 and COD61 all mutation Exon 2-3 Mini Sequencing Yes
Braf V600 Mutation Panel BRAF V600D,E,G,K,R,M Mini Sequencing Yes
 Osteoporosis  Panel COL1A1, ESR1, VDR, CTR SPI, XBaI, PvuII, BsmI, FokI, AluI Mini Sequencing
5-fluorouracil toxicity DPD*2A IVS14+1G>A Mini Sequencing
CYP2C9 CYP2C9  Alleles of *1, *2, *3, *4, *5 Mini Sequencing
CYP2C19 CYP2C19 Alleles of *1, *2, *3, *4, *17 Mini Sequencing
CYP1A2 CYP1A2 Alleles of *1A, *1F Mini Sequencing
CYP3A4 CYP3A4  Alleles of *1A, *1B Mini Sequencing
FLT3 ITD, D835 FLT3 Mutations of ITD and D835 Mini Sequencing + Fragment Analysis
Gaucher GBA Point Mutation Mini Sequencing
 Achondroplasia – Hypochondroplasia -TD1-TD2 FGFR3 Point Mutation Mini Sequencing
LHON MT-ND4 Point Mutation Mini Sequencing
MT-ND1 Mini Sequencing
MT-ND6 Mini Sequencing
A1AT (Alpha-1 antitrypsin) SERPINA (E264V, E342K) Point Mutation MiniSequencing
Six-mercaptopurine sensitivity TPMT *1, *2, *3A, *3B, *3C Mini Sequencing
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