Súper Panel para Doenças Mitocondriais (DNA Nuclear e Mitocondrial)

Información del catálogo

Datos técnicos de Súper Panel para Doenças Mitocondriais (DNA Nuclear e Mitocondrial)

Investigação genética de Doenças Mitocondriais (DNA Nuclear e Mitocondrial) por Súper Panel, com análise direcionada baseada em genoma completo.

Aplicaciones

Enfermedades raras y hereditarias.

Muestras aceptadas

sangre periférica (preferido), hisopo bucal, DNA extraído

Plazo estimado

Tradicional · 30 días calendario, contados após aceptación de muestra.

Rápido · 15 días calendario, contados após aceptación de muestra.

método básico

Secuenciación de nova geração (NGS) do genoma completo, com análise direcionada aos genes do painel.

Alcance analítico

Análisis dos genes listados conforme a base genômica e os critérios técnicos validados pelo laboratório.

Genes analizados

371 genes registrados en el alcance estructurado del examen.

Ver contenido completo +

AARS2, ABAT, ABCB7, ACACA, ACAD9, ACADM, ACADVL, ACAT1, ACO2, ADAR, AFG3L2, AGK, AIFM1, AK2, ALDH3A2, AMT, APTX, ATP5F1A, ATP5F1D, ATP5F1E, ATP7A, ATP7B, ATPAF2, AUH, BAG3, BCS1L, BOLA3, BTD, C19ORF12, C1QBP, CA5A, CARS2, CEP89, CHAT, CHCHD10, CHKB, CLPB, CLPP, COA3, COA5, COA6, COA7, COA8, COASY, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX5A, COX6B1, COX7B, COX8A, COXFA4, CPS1, CPT1A, CYC1, CYCS, D2HGDH, DARS2, DDC, DES, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, GAMT, GARS1, GATB, GATC, GATM, GCDH, GDAP1, GFER, GFM1, GFM2, GLDC, GLRX5, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HSD17B10, HSPD1, HTRA2, IARS1, IARS2, IBA57, IDH2, IDH3B, IFIH1, ISCA1, ISCA2, ISCU, KARS1, L2HGDH, LAMP2, LARS2, LIAS, LIPT1, LIPT2, LMBRD1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICOS13, MICU1, MIPEP, MOCS1, MPC1, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS34, MRPS7, MSTO1, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MTHFD1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MTRFR, MT-RNR1, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TV, MT-TW, MT-TY, NADK2, NARS2, NAXE, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NGLY1, NNT, NR2F1, NSUN3, NUBPL, NUP62, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARS2, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PET117, PINK1, PITRM1, PMPCA, PMPCB, PNKD, PNPLA8, PNPT1, POLG, POLG2, POP1, PPA2, PPOX, PSAP, PTCD3, PUS1, QRSL1, RANBP2, RARS1, RARS2, REEP1, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RRM2B, RTN4IP1, SACS, SAMHD1, SARS2, SCN1A, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC39A8, SLC52A2, SLC52A3, SLC6A8, SPAST, SPG7, STAT2, STXBP1, SUCLA2, SUCLG1, SUGCT, SUOX, SURF1, TACO1, TAFAZZIN, TANGO2, TARS2, TFAM, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TREX1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WDR45, WFS1, XPNPEP3, YARS2, YME1L1

Solicitud medica

Requerida