Genes Analisados: 200
AARS AARS2 ABCD1 ABHD16A ACBD5 ACER3 ACOX1 ACTA2 ADAR AIFM1 AIMP1 ALDH3A2 AP4B1 APOPT1 APP ARSA ASPA ATP7A AUH BCAP31 BCS1L BOLA3 BORCS8 C2orf69 CIC CLCN2 CLDN11 CLPP CNTNAP1 COA7 COL4A1 COLGALT1 COQ2 COX10 COX15 CSF1R CSMD1 CST3 CTC1 CTSA CYP27A1 CYP7B1 D2HGDH DARS DARS2 DCAF17 DEGS1 DENND5B DGUOK DPYD EARS2 EIF2AK2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELOVL1 ENTPD1 EPRS ERCC6 ERCC8 ETFDH FA2H FAM126A FIG4 FOLR1 FUCA1 GALC GBE1 GFAP GFM1 GJA1 GJB1 GJC2 GLA GLB1 GLRX5 GPRC5B GRN HEPACAM HEXA HIKESHI HMBS HMGCL HPDL HSD17B4 HSPD1 HTRA1 HYOU1 ICOS IFIH1 ISCA1 ISCA2 KARS KIF5A L2HGDH LAMB1 LARS2 LIG3 LMNB1 LYRM7 MAN2B1 MAPT MCOLN1 MEF2C MLC1 MTFMT MTHFR NAXD NAXE NDUFAF1 NDUFAF3 NDUFS1 NDUFS2 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFE2L2 NFU1 NKX6-2 NOTCH1 NOTCH3 NPC1 NUBPL PAFAH1B1 PAH PC PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PI4KA PLP1 POLG POLR1C POLR3A POLR3B PPP1R21 PRNP PSAP PSEN1 PSEN2 PTEN PYCR2 RAB11B RARS RNASEH2A RNASEH2B RNASEH2C RNASET2 RNF220 RPIA RRM2B SAMHD1 SCO1 SCO2 SDHA SDHAF1 SDHB SLC13A3 SLC16A2 SLC17A5 SLC25A12 SLC25A4 SNORD118 SOX10 SPART SPG11 SPG21 SUCLA2 SUMF1 SURF1 TACO1 TMEM106B TMEM163 TMEM63A TPP2 TREM2 TREX1 TUBB4A TUFM TYMP TYROBP UFM1 VPS11 WARS WARS2 ZFYVE26
Preparo para coleta:
Realizar a higiene bucal e coletar após 30 minutos de jejum.
Instruções de coleta:
• Coloque o swab dentro do tubo e feche bem a tampa;
• Coloque o tubo de coleta na embalagem plástica e guarde-o na caixa junto com os documentos preenchidos;
