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 |
|