PAINEL DE DOENÇAS MITOCONDRIAIS
Condições
- Sangue total (EDTA).
Coleta Apoio
- Colher os exames de genética em tubo separado dos demais setores.
- Enviar pedido médico.
Volume Mínimo
- 4,0 mL.
Volume Recomendável
- 4,0 mL.
Conservação Apoio
- Até 5 dias refrigerado entre 2 e 8ºC.
Interferentes
- Uso de anticoagulante incorreto.
- Coleta inadequada.
Painel Molecular para Mitocondriopatias
159 GENES NUCLEARES + mtDNA
Genes analisados: 159 Genes do genoma nuclear + 37 Genes mitocondrial
AARS2, ACAD9, ACAT1, ADCK3, AGA, AGK, ATAD3A, ATPD3A, ATP5A1, ATP5E, ATPAF2, BCS1L, BOLA3, C100RF2, C12orf65, CARS2, COA3, COA5, COA6, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX6A1, COX6B1, COX7B, COX8A, DARS2, DGUOK, DLAT, DLD, DNAJC19, DNM1L, EARS2, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GARS, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HSD17B10, IARS2, IBA57, ISCA2, ISCU, LARS2, LIAS, LIPT1, LRPPRC, LYRM4, LYRM7, MFN2, MGME1, MLYCD, MPV17, MRPL3, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTO1, NADK2, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA13, NDUFA2, NDUFA9, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, POLG2, PUS1, RARS2, RMND1, RTN4IP1, RRM2B, SASR2, SCO1, SCO2, SDHA, SDHF1, SDHD, SERAC1, SLC19A3, SLC25A26, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TFAM. TIMM8A, TK2, TMEM126A, TMEM70, TRMT10C, TRMT5, TRMU, TSFM, TUFM, TYMP, UQCC2, UQCC3, UQCRB, UQCRQ, VARS2, WFS1,YARS2.
GENES MITOCONDRIAL: MTRNR1, MTRNR2, MTTA, MTTR, MTTN, MTTD, MTTC, MTTE, MTTQ, MTTG,MTTH, MTTI, MTTL1, MTTL2, MTTK, MTTM, MTTF, MTTP, MTTS1, MTTS2, MTTT, MTTW, MTTY, MTTV,MTND1, MTND2, MTND3, MTND4, MTND4L, MTND5, MTND6, MYCYB, MTCO1, MTCO2, MTCO3, MTATP6, MTATP8.