Serviços > Testes Pré-Concecionais > Pré-Natal > Repro Large (427 genes)

Repro Large (427 genes)

Descrição

Determinar se os progenitores são portadores de doença com hereditariedade autossómica recessiva ou ligadas ao cromossoma X.

  • 427 genes;
  • 4000 variantes.

Genes

GEN_NGS0003
ABCA12 ARSB CLCN1 DNAH5 GBE1 HSD17B3 MED17 OTCx PTS SLC39A4 TYR
ABCA4 ARSEx CLN3 DNAI1 GCDH HSD17B4 MEFV OTOF PUS1 SLC3A1 TYRP1
ABCB11 ARSFx CLN5 DNAI2 GDAP1 HSD3B2 MESP2 P3H1 PYGM SLC45A2 UGT1A1
ABCC8 ARXx CLN6 DOK7 GDF5 HUWE1x MFSD8 PAH QDPR SLC46A1 UPF3Bx
ABCD1x ASL CLN8 DUOX2 GDI1x HYLS1 MKS1 PAK3x RAB23 SLC4A11 USH1C
ABCD4 ASNS CLRN1 DUOXA2 GJB1x IDH3B MLC1 PANK2 RAG2 SLC5A5 USH1G
ACADM ASPA CNGA1 DYSF GJB2 IDSx MLYCD PAX8 RAPSN SLC6A19 USH2A
ACADS ASS1 CNGB1 EDAx GJB3 IDUA MMAA PC RARS2 SLC7A7 USP9Xx
ACADSB ATM CNGB3 EIF2AK3 GLAx IKBKAP MMAB PCBD1 RAX SLC7A9 VPS13A
ACADVL ATP6V1B1 COL4A3 EIF2B5 GLB1 IL1RAPL1x MMACHC PCCA RDH12 SMN1 VPS13B
ACAT1 ATP7Ax COL4A4 EMDx GLDC IL2RGx MMADHC PCCB RLBP1 SMPD1 VPS53
ACOX1 ATP7B COL4A5x ERCC6 GNE IQSEC2x MPI PCDH15 RMRP SPG11 VRK1
ACSF3 ATRXx COL7A1 ERCC8 GNMT IVD MPL PDE6A RP2x SPG7 VSX2
ACSL4x BBS1 CPS1 ETFA GNPTAB IYD MPV17 PDHA1x RPE65 SRD5A2 WASx
ADA BBS10 CPT1A ETFB GNPTG JAK3 MTM1x PDHB RPGRx STAR WHRN
ADAMTS2 BBS12 CPT2 ETFDH GNRHR KCNJ11 MTMR2 PEX1 RPS6KA3x SUMF1 WRN
ADK BBS2 CRB1 ETHE1 GNS KDM5Cx MTRR PEX10 RS1x SURF1 XPA
AFF2x BCHE CTH EVC GPR143x L1CAMx MTTP PEX12 RTEL1 SYN1x XPC
AGA BCKDHA CTNS EVC2 GRHPR LAMA2 MUT PEX2 SACS TAT ZDHHC9x
AGL BCKDHB CTSC EXOSC3 GRIA3x LAMA3 MVK PEX6 SEPSECS TCIRG1 ZFYVE26
AGPS BCS1L CTSD EYS GUCY2D LAMB3 MYO15A PEX7 SERPINA1 TECPR2 ZNF711x
AGXT BLM CTSK F8x GUSB LAMC2 MYO7A PFKM SGCA TFR2
AHCY BRIP1 CUL4Bx F9x HADHA LCA5 NAGLU PGK1x SGCB TG
AHI1 BRWD3x CYBA FGD1x HADHB LDLR NBN PHF8x SGCD TGM1
AIPL1 BSND CYBBx FH HAL LDLRAP1 NDPx PHGDH SGCG TH
AIRE BTD CYP11B1 FKRP HAX1 LHCGR NDRG1 PKHD1 SGSH THOC2x
ALDH3A2 CAPN3 CYP11B2 FKTN HBA1 LIFR NDUFS6 PLOD1 SH3TC2 THRB
ALDH4A1 CASKx CYP17A1 FMR1x HBA2 LIPA NEB PLP1x SLC12A3 TMEM216
ALDOB CASQ2 CYP19A1 FTCD HBB LMBRD1 NLGN4Xx PMM2 SLC12A6x TPO
ALG6 CBS CYP1B1 FTSJ1x HEXA LOXHD1 NPC1 POLG SLC16A2 TPP1
ALMS1 CD40LGx CYP21A2 G6PC HEXB LPL NPC2 POLR1C SLC17A5 TRDN
ALPL CDH23 CYP27A1 G6PDx HFE2 LRPPRC NPHP1 POMGNT1 SLC22A5 TRIM32
AMH CEP290 DBT GAA HGD LYST NPHS1 POMT1 SLC25A13 TRMU
AMHR2 CERKL DCLRE1C GALC HGSNAT MAN2B1 NPHS2 POMT2 SLC25A15 TSEN54
AMT CFTR DCXx GALE HLCS MAT1A NR0B1x POR SLC25A20 TSHB
AP1S2x CHMx DHCR7 GALK1 HMGCL MCCC1 NR2E3 POU3F4x SLC26A2 TSHR
ARx CHRNE DHDDS GALNS HOGA1 MCCC2 NTRK1 PPT1 SLC26A3 TSPAN7x
ARG1 CHRNG DLD GALT HPS1 MCEE OCRLx PQBP1x SLC26A4 TTC37
ARL13B CHST6 DLG3x GAMT HPS3 MCOLN1 OPA3 PROP1 SLC35A3 TTPA
ARSA CIITA DMDx GBA HPS4 MECP2x OPHN1x PRPS1x SLC37A4 TYMP

x Doenças ligadas ao cromossoma X

Metodologia

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