🧬 Genes analisados
Sequenciamento completo de todas as regiões codificantes e regiões flanqueadoras adjacentes aos exons de 328 genes: AAAS, ABCB11, ABCC6, ABCC8, ABCD1, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ADA, ADAMTS2, ADAR, ADGRG1 (GPR56), AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDH7A1, ALDOB, ALG6, ALPL, AMT, AP1S1, AP3B1, AR, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V1B1, ATP7B, BBS1, BBS10, BBS12, BBS2, BBS4, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BLM, BSND, BTD, CANT1, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHAT, CHM, CHRNE, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA3, CNGB3, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CPT1A, CPT2, CRB1, CRPPA (ISPD), CTNS, CTSD, CTSF, CTSK, CYP17A1, CYP19A1, CYP1B1, CYP27A1, CYP27B1, DBT, DCLRE1C, DDC, DHCR7, DHDDS, DKC1, DLD, DMD, DNAH5, DNAI1, DNAI2, DNAJC5, DOK7, DPYD, DYSF, EDA, EDAR, ELP1 (IKBKAP), EMD, ERCC2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EYS, F11, F8, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, G6PC1 (G6PC), G6PD, GAA, GALC, GALE, GALK1, GALNT3, GALT, GAMT, GBA, GBE1, GCDH, GCSH, GDF5, GFPT1, GJB1, GJB2, GJB6, GLA, GLB1, GLDC, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GRHPR, GRN, GUCY2D, HADH, HADHA, HADHB, HAX1, HBA1, HBA2, HBB, HEPACAM, HEXA, HEXB, HGD, HGSNAT, HJV (HFE2), HLCS, HMGCL, HOGA1, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B3, HSD17B4, HSD3B2, IDS, IDUA, IL2RG, IVD, KCNJ11, KCTD7, L1CAM, LAMA3, LAMB3, LAMC2, LARGE1 (LARGE), LCA5, LHCGR, LIFR, LIPA, LIPH, LOXHD1, LPL, LRPPRC, LYST, MAN2B1, MCCC1, MCCC2, MCOLN1, MED17, MEFV, MFSD8, MKKS, MKS1, MLC1, MMAA, MMAB, MMADHC, MPI, MPL, MPV17, MRE11A, MTHFR, MTM1, MTTP, MUT, MYO7A, NAGLU, NAGS, NBN, NDUFAF6, NEB, NPC1, NPC2, NPHS1, NPHS2, NR2E3, NTRK1, OPA3, OTC, PAH, PCCA, PCCB, PCDH15, PDHA1, PDHB, PEPD, PET100, PEX1, PEX10, PEX12, PEX2, PEX26, PEX6, PEX7, PFKM, PHGDH, PKHD1, PMM2, POLG, POMGNT1, POMT1, POMT2, PPT1, PRPS1, PSAP, PUS1, PYGL, PYGM, RAB23, RAG1, RAG2, RAPSN, RARS2, RDH12, RNASEH2A, RNASEH2B, RNASEH2C, RPE65, RS1, RTEL1, SACS, SAMD9, SAMHD1, SBDS, SEPSECS, SERPINA1, SGCA, SGCB, SGCG, SGSH, SLC12A3, SLC12A6, SLC17A5, SLC22A5, SLC25A15, SLC26A2, SLC26A4, SLC35A3, SLC37A4, SLC39A4, SLC4A11, SLC6A8, SMPD1, ST3GAL5, STAR, STS, SUMF1, TAT, TCIRG1, TECPR2, TFR2, TGM1, TH, TMEM216, TPP1, TREX1, TRIM37, TSEN2, TSEN34, TSEN54, TTC8, TTN, TTPA, UBR1, UGT1A1, USH1C, USH2A, VPS13A, VPS53, VRK1, XPA, XPC e ZFYVE26.Testagem familiar gratuitaDisponível para até 6 familiares consanguíneos.**Caso o resultado do exame apresente alterações patogênicas ou provavelmente patogênicas, disponibilizamos a análise dessas alterações (mutação pontual) para até 6 familiares consanguíneos, sem ônus e sem taxa de envio de coleta.
