Gen-Panel
Anämien, umfassende Diagnostik: ID392.01, 188 Gene
ABCB7,
ABCG5,
ABCG8,
ADA,
ADA2,
ADAMTS13,
ADH5,
AK1,
AK2,
ALAD,
ALAS2,
ALDH2,
ALDOA,
AMN,
ANK1,
ATM,
ATP11C,
ATRX,
BLM,
BRCA1,
BRCA2,
BRIP1,
C1GALT1C1,
C3,
CBLIF,
CD46,
CD59,
CDAN1,
CDIN1,
CFB,
CFH,
CFHR1,
CFHR3,
CFI,
COL4A1,
COX4I2,
CPOX,
CUBN,
CYB5R3,
DGKE,
DHFR,
DKC1,
DNAJC21,
DNASE2,
ELANE,
EPAS1,
EPB41,
EPB42,
EPO,
ERCC4,
ERCC6L2,
FANCA,
FANCB,
FANCC,
FANCD2,
FANCE,
FANCF,
FANCG,
FANCI,
FANCL,
FANCM,
FOXP3,
FTCD,
FTL,
G6PC3,
G6PD,
GATA1,
GCLC,
GLRX5,
GPI,
GPX1,
GSR,
GSS,
HAMP,
HBA1,
HBA2,
HBB,
HBD,
HBG1,
HBG2,
HEATR3,
HFE,
HK1,
HSCB,
HSPA9,
IARS2,
IREB2,
KCNN4,
KIF23,
KLF1,
LARS2,
LCAT,
LIG4,
LPIN2,
MAD2L2,
MDM4,
MMACHC,
MMADHC,
MPIG6B,
MPL,
MTHFD1,
MTR,
MTRR,
MYSM1,
NBN,
NDUFB11,
NHEJ1,
NHLRC2,
NHP2,
NT5C3A,
PALB2,
PFKM,
PGK1,
PIEZO1,
PKLR,
PRF1,
PUS1,
RACGAP1,
RAD51,
RAD51C,
RBSN,
REN,
RFWD3,
RHAG,
RMRP,
RPL5,
RPL9,
RPL11,
RPL15,
RPL18,
RPL26,
RPL27,
RPL31,
RPL35,
RPL35A,
RPS7,
RPS10,
RPS15A,
RPS19,
RPS24,
RPS26,
RPS27,
RPS28,
RPS29,
RUNX1,
SBDS,
SEC23B,
SH2B3,
SH2D1A,
SLC2A1,
SLC4A1,
SLC11A2,
SLC19A1,
SLC19A2,
SLC25A38,
SLC30A7,
SLC40A1,
SLC46A1,
SLX4,
SMAD4,
SPTA1,
SPTB,
SRP72,
STAT3,
STEAP3,
STIM1,
TBXAS1,
TCN2,
TERC,
TERT,
TF,
TFR2,
THBD,
THPO,
TINF2,
TMPRSS6,
TOMM70,
TP53,
TPI1,
TRNT1,
TSR2,
UBE2T,
UMPS,
VPS4A,
WRAP53,
XK,
XRCC2,
YARS2
Inkludierte Phänotypen
Diamond-Blackfan-Anämie (DBA): 21 Gene
HEATR3,
RPL5,
RPL9,
RPL11,
RPL15,
RPL18,
RPL26,
RPL27,
RPL31,
RPL35,
RPL35A,
RPS7,
RPS10,
RPS15A,
RPS19,
RPS24,
RPS26,
RPS27,
RPS28,
RPS29,
TSR2
Fanconi-Anämie (FANC): 21 Gene
BRCA1,
BRCA2,
BRIP1,
ERCC4,
FANCA,
FANCB,
FANCC,
FANCD2,
FANCE,
FANCF,
FANCG,
FANCI,
FANCL,
MAD2L2,
PALB2,
RAD51,
RAD51C,
RFWD3,
SLX4,
UBE2T,
XRCC2
Hereditäre Stomatozytose: 8 Gene
ABCB6,
ABCG5,
ABCG8,
KCNN4,
PIEZO1,
RHAG,
SLC2A1,
SLC4A1
Kongenitale dyserythropoetische Anämie (CDAN): 6 Gene
CDAN1,
CDIN1,
KIF23,
KLF1,
RACGAP1,
SEC23B
Kongenitale nicht-sphärozytäre hämolytische Anämie (CNSHA): 10 Gene
AK1,
G6PD,
GATA1,
GCLC,
GPI,
GSR,
GSS,
HK1,
NT5C3A,
PKLR
Megaloblastische Anämie: 13 Gene
AMN,
CUBN,
DHFR,
FTCD,
MMADHC,
MTHFD1,
MTR,
MTRR,
SLC19A1,
SLC19A2,
SLC46A1,
TCN2,
UMPS
Sideroblastische Anämie (SIDBA): 10 Gene
ABCB7,
ALAS2,
GLRX5,
HSCB,
HSPA9,
LARS2,
PUS1,
SLC25A38,
TRNT1,
YARS2
Sphärozytose (SPH) und Elliptozytose (EL): 6 Gene
ANK1,
EPB41,
EPB42,
SLC4A1,
SPTA1,
SPTB