PARA QUE SERVE?

Neste painel é realizado o o sequenciamento completo (éxons e regiões intrônicas flanqueadoras) e avaliação do número de cópias (CNV) por sequenciamento de nova geração (NGS) de 183 genes associados a quadros de anemias genéticas, incluindo: Anemia Falciforme, Talassemia Beta, Deficiência de G6PD, Síndrome de Shwachman-Diamond, Anemia Megaloblástica Responsiva à Tiamina.

GENES

ABCB7 ABCD4 ABCG5 ABCG8 ACD ADA2 ADH5 AK1 ALAS2 ALDOA AMMECR1 AMN ANK1 APOB ATP11C ATRX BOLA2 BRCA1 BRCA2 BRIP1 CBLIF CD46 CD59 CDAN1 CDIN1 CFB CFH CFI COQ2 COX4I1 COX4I2 CPOX CTC1 CUBN DHFR DKC1 DNAJC19 DNAJC21 EFL1 EPB41 EPB42 EPO ERCC4 ERCC6L2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FECH FTCD G6PD GATA1 GCLC GLRX5 GPI GSR GSS HBA1 HBA2 HBB HK1 HMOX1 HSPA9 IREB2 IVD KCNN4 KIF23 KLF1 LARS2 LCAT LMBRD1 LPIN2 MAD2L2 MDM4 MMAA MMAB MMACHC MMADHC MMUT MPIG6B MTHFD1 MTR MTRR MYSM1 NBN NHP2 NOP10 NT5C3A PALB2 PANK2 PARN PCCA PCCB PFKM PGK1 PIEZO1 PKLR PNPO PRF1 PUS1 RACGAP1 RAD51 RAD51C RFWD3 RGL2 RHAG RPL10 RPL10A RPL11 RPL15 RPL18 RPL19 RPL26 RPL27 RPL3 RPL31 RPL34 RPL35 RPL35A RPL5 RPLP0 RPS10 RPS11 RPS14 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS7 RTEL1 SBDS SC5D SEC23B SLC11A2 SLC19A1 SLC19A2 SLC25A38 SLC2A1 SLC46A1 SLC4A1 SLX4 SPTA1 SPTB SRC SRP54 SRP72 STEAP3 TALDO1 TCN2 TERT TF TFRC TGFB1 THBD TINF2 TKFC TMPRSS6 TP53 TPI1 TRNT1 TSR2 UBE2T UMPS UROD UROS VPS13A VPS4A WRAP53 XK XRCC2 YARS2 ZCCHC8