Sıra No | Açıklama | Birimi | Brans Kodu | Miktarı |
---|---|---|---|---|
1 | AZF Delesyonları | Test | SARF MALZEMELER | 500,000 |
2 | Talassemi | Test | SARF MALZEMELER | 100,000 |
3 | FMF | Test | SARF MALZEMELER | 100,000 |
4 | Kistik Fibrosis | Test | SARF MALZEMELER | 50,000 |
5 | Kistik Fibrosis Tüm Gen | Test | SARF MALZEMELER | 50,000 |
6 | Konjenital Adrenal Hiperplazi, a)CYP21A2 Sequencing and deletion , b)11ß hidroksilaz (CYP11B1) | Test | SARF MALZEMELER | 300,000 |
7 | Monogenic Diabetes (MODY) a)HNF4A VE INS (HNF4A/INS-Related MODY1), b)GCK(MODY2), C) HNF1A (MODY3), d)IPF1 (MODY4), e) HNF1B (MODY5), f) CEL (MODY8) | Test | SARF MALZEMELER | 300,000 |
8 | MEN1/MEN2 (RET) | Test | SARF MALZEMELER | 50,000 |
9 | Familial Hypocalciuric hypercalcemia (CASR) | Test | SARF MALZEMELER | 50,000 |
10 | Hereditary Spastic Paraplegia (HSP) a)SPG3A, b)SPAST (SPG4) | Test | SARF MALZEMELER | 100,000 |
11 | CADASIL (NOTCH3) | Test | SARF MALZEMELER | 100,000 |
12 | Duchenne/Becker Distrofi | Test | SARF MALZEMELER | 200,000 |
13 | SMA 1-2 | Test | SARF MALZEMELER | 200,000 |
14 | Parkinson a)PARK2 (parkin), b)PINK1, c)PARK7, d)SNCA, e)LRRK2 | Test | SARF MALZEMELER | 100,000 |
15 | BRCA 1-2 | Test | SARF MALZEMELER | 50,000 |