| 1 |
Moleküler |
Ekzom Sekanslama (WES) |
|
İncele |
| 2 |
FISH |
11q22.3 (ATM) Delesyonu FISH |
|
İncele |
| 3 |
FISH |
11q23 FISH |
|
İncele |
| 4 |
FISH |
13/21 FISH |
|
İncele |
| 5 |
FISH |
14 q Breakapart |
|
İncele |
| 6 |
FISH |
17p13.1 Delesyonu FISH |
|
İncele |
| 7 |
FISH |
20q12 Delesyonu FISH |
|
İncele |
| 8 |
FISH |
4q12 Deletion/Fusion |
|
İncele |
| 9 |
FISH |
5q31 Delesyonu FISH |
|
İncele |
| 10 |
FISH |
5q32 Breakapart |
|
İncele |
| 11 |
FISH |
7q11 Mikrodelesyon FISH |
|
İncele |
| 12 |
FISH |
7q31 Delesyonu FISH |
|
İncele |
| 13 |
FISH |
Digeorge 22q13.3 Deletion |
|
İncele |
| 14 |
FISH |
inv(16)(q22;p13) FISH |
|
İncele |
| 15 |
FISH |
t(11;14)(q13;q32) FISH |
|
İncele |
| 16 |
FISH |
t(12;21)(p13;q22) FISH |
|
İncele |
| 17 |
FISH |
t(15;17)(q24;q21) FISH |
|
İncele |
| 18 |
FISH |
t(4;14)(p16;q32) FISH |
|
İncele |
| 19 |
FISH |
t(8;21)(q21;q22) FISH |
|
İncele |
| 20 |
FISH |
t(9;22)(q34;11.2) FISH |
|
İncele |
| 21 |
FISH |
Trizomi / Monozomi 8 FISH |
|
İncele |
| 22 |
FISH |
Trizomi 12 FISH |
|
İncele |
| 23 |
FISH |
Xp22.3 Mikrodelesyon FISH |
|
İncele |
| 24 |
FISH |
Xp22.3/Xp22.31 Mikrodelesyon FISH |
|
İncele |
| 25 |
FISH |
Yp11.31 Mikrodelesyon FISH |
|
İncele |
| 26 |
FISH |
FISH, Trizomi/Monozomi 4 (CEP 4) (SE 4) (Sentromer 4) |
|
İncele |
| 27 |
FISH |
FISH, Trizomi/Monozomi 10 (CEP 10) (SE 10) (Sentromer 10) |
|
İncele |
| 28 |
FISH |
FISH, Trizomi/Monozomi 7 (CEP 7) (SE 7) (Sentromer 7) |
|
İncele |
| 29 |
FISH |
13q14.3 Delesyonu FISH |
|
İncele |
| 30 |
FISH |
15q11.2 Mikrodelesyon FISH |
|
İncele |
| 31 |
FISH |
17p11.2 Mikrodelesyon FISH |
|
İncele |
| 32 |
FISH |
17p13 Mikrodelesyon FISH |
|
İncele |
| 33 |
FISH |
1q21.3 Delesyon FISH |
|
İncele |
| 34 |
FISH |
5p15 Mikrodelesyon FISH |
|
İncele |
| 35 |
FISH |
8q24 FISH |
|
İncele |
| 36 |
FISH |
9p21 Delesyon FISH |
|
İncele |
| 37 |
FISH |
Digeorge 22q13.3 Deletion |
|
İncele |
| 38 |
FISH |
Digeorge 22q13.3 Deletion |
|
İncele |
| 39 |
FISH |
t(1;19)(q23;p13) FISH |
|
İncele |
| 40 |
FISH |
t(11;19)(q23;p13) FISH |
|
İncele |
| 41 |
FISH |
t(14;16)(q32;q23) Translokasyon FISH |
|
İncele |
| 42 |
FISH |
t(14;18)(q32;q21) FISH |
|
İncele |
| 43 |
FISH |
t(14;20)(q32;q12) Translokasyon FISH |
|
İncele |
| 44 |
FISH |
t(4;11) (q21;q23) FISH |
|
İncele |
| 45 |
FISH |
t(8;14)(q24;q32) FISH |
|
İncele |
| 46 |
FISH |
t(9;11)(p21;q23) FISH |
|
İncele |
| 47 |
FISH |
FISH, X / Y / 18 |
|
İncele |
| 48 |
FISH |
FISH, 1p.36.32/1q25 ve 19q13.2/19q.13.33 Delesyon Analizi |
|
İncele |
| 49 |
FISH |
17q12 FISH |
|
İncele |
| 50 |
FISH |
2p23.2-p23.1 FISH |
|
İncele |
| 51 |
FISH |
6q22.1 FISH |
|
İncele |
| 52 |
FISH |
1q22-q23.1 FISH |
|
İncele |
| 53 |
FISH |
9q21.32/q21.33 FISH |
|
İncele |
| 54 |
FISH |
15q25.3-q26.1 FISH |
|
İncele |
| 55 |
FISH |
t(11;22)(q24.3;q12.1-q12.2) FISH |
|
İncele |
| 56 |
FISH |
2p24.3/2q11.2 FISH |
|
İncele |
| 57 |
FISH |
17p13.1 FISH |
|
İncele |
| 58 |
FISH |
13q14 FISH |
|
İncele |
| 59 |
Sitogenetik |
*Kemik iliğinden kromozom analizi |
|
İncele |
| 60 |
Sitogenetik |
*Periferik kandan kromozom analizi |
|
İncele |
| 61 |
Sitogenetik |
*Fetal kandan kromozom analizi |
|
İncele |
| 62 |
Sitogenetik |
*Amnion sıvısından kromozom analizi |
|
İncele |
| 63 |
Sitogenetik |
Koryonik villusdan kromozom analizi |
|
İncele |
| 64 |
Sitogenetik |
*Düşük materyalinden kromozom analizi |
|
İncele |
| 65 |
Sitogenetik |
Diğer dokulardan kromozom analizi |
|
İncele |
| 66 |
MLPA Delesyon-Duplikasyon |
BRCA1 GENİ DELESYON DUPLİKASYON ANALİZİ |
BRCA1 |
İncele |
| 67 |
MLPA Delesyon-Duplikasyon |
BRCA2 GENİ DELESYON DUPLİKASYON ANALİZİ |
BRCA2 |
İncele |
| 68 |
MLPA Delesyon-Duplikasyon |
SPİNAL MUSKÜLER ATROFİ DELESYON DUPLİKASYON ANALİZİ |
SMN1-SMN2 |
İncele |
