Panel für Mitochondriopathien

Infor­ma­tio­nen

Das Dia­gnos­tik-Panel für Mito­chon­drio­pa­thi­en umfasst 396 Gene. Alle die­se Gene wer­den par­al­lel sequen­ziert und die Gene inter­pre­tiert, die mit dem Phä­no­typ des Pati­en­ten asso­zi­iert sind. Unten fin­den Sie, neben allen Genen des Panels, unse­re vor­ge­schla­ge­nen Gen-Sets.

Für dia­gnos­ti­sche Fra­ge­stel­lun­gen kön­nen die Gen-Sets ein­zeln oder in Kom­bi­na­ti­on ange­for­dert wer­den. Eine indi­vi­du­el­le Gen­kom­bi­na­ti­on ist eben­falls mög­lich.

Bei Fra­gen wen­den Sie sich bit­te gern an unser Dia­gnos­tik-Sup­port Team.

Metho­de

Die Anrei­che­rung der kodie­ren­den Berei­che, sowie der angren­zen­den Intron­be­rei­che erfolgt mit einer Hybri­di­za­ti­on-in-Solu­ti­on-Tech­no­lo­gie. Hier­bei wird die Aus­wahl der anzu­rei­chern­den Berei­che getrof­fen und die Anrei­che­rungs-Baits designt.

Die Hoch­durch­satz-Sequen­zie­rung wird auf der Illu­mi­na HiSeq Platt­form durch­ge­führt. Mit­tels haus­in­ter­ner Com­pu­ter­clus­ter wer­den die Daten bio­in­for­ma­tisch auf­be­rei­tet.

Anschlie­ßend wer­tet unser Team aus Wis­sen­schaft­lern und Fach­ärz­ten für Human­ge­ne­tik die Daten aus und erstellt einen medi­zi­ni­schen Befund.

Mate­ri­al und Dau­er
  • 3–5 ml EDTA-Blut oder 5 µg geno­mi­sche DNA
  • Ein­sen­de­for­mu­lar inkl. schrift­li­che Ein­ver­ständ­nis­er­klä­rung nach GenDG

Dau­er der Unter­su­chung: 4–6 Wochen

Ein­sen­de­for­mu­lar
Gen­lis­te inkl. Kilo­ba­sen

Mito­chon­drio­pa­thi­en — Aus­wer­tung der gesam­ten mtD­NA inkl. der Kon­troll­re­gio­nen (MIT01)

MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MTTL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY (37 Gene, 15 kb)

Ein­sen­de­for­mu­lar

Nukle­är kodier­te mito­chon­dria­le Erkran­kun­gen (MIT02)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AARS2, ABCB7, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMPD1, AMT, ANO10, APOPT1, APTX, ATAD3A, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C10ORF2, C12ORF65, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, CEP89, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYB5R3, CYC1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDHD1, DGUOK, DHTKD1, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DPAGT1, DPYD, EARS2, ECHS1, ECI1, ECSIT, EIF2AK3, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GAD1, GAMT, GARS, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GNPAT, GPAM, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS, IARS2, IBA57, IDH2, ISCA2, ISCU, ITPA, IVD, KIF5A, KLC2, L2HGDH, LAMP2, LARS, LARS2, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MGST3, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRRF, MTFMT, MTO1, MTPAP, MUT, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NIPSNAP1, NIPSNAP3A, NPL, NR2F1, NSUN3, NUBPL, NUP62, OAT, OFD1, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARP10, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PHYH, PIGQ, PLA2G6, PNPLA2, PNPLA4, PNPT1, POLG, POLG2, PPA2, PPOX, PTCD1, PUS1, PYCR1, PYGM, QRSL1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RRM2B, RTN4IP1, RYR1, SAMH D1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC24A4, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC33A1, SLC35G2, SLC39A8, SLC52A2, SLC6A8, SPAST, SPG20, SPG7, STXBP1, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFAM, TFG, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TSFM, TTC19, TUFM, TXN2, TYMP, UGT1A1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, WWOX, XPNPEP3, YARS2, YME1L1 (359 Gene, 525 kb)

Bit­te tref­fen Sie für gesetz­lich ver­si­cher­te Pati­en­ten eine indi­vi­du­el­le Aus­wahl von Genen bis maxi­mal 25 kb (sie­he Sei­te 5) ent­spre­chend dem kli­ni­schen Phä­no­typ. Gern sind wir dabei behilf­lich.

Ein­sen­de­for­mu­lar

Leigh-Syn­drom (nukle­ä­re Gene) (MIT03)

SURF1, BCS1L, COX10, NDUFS4, NDUFS8, NDUFAF2, NDUFAF6, NDUFS7, ECHS1, COX15, NDUFA10, NDUFA2, FOXRED1, SDHA, NDUFA12, HIBCH, C12ORF65, NDUFAF5, NDUFV1, IARS2, NDUFS3, NDUFA9 (22 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Mito­chon­dria­le Enze­pha­lo­pa­thie / Mito­chon­dria­le Hepato(enzephalo)pathie (MIT04)

ABHD5, AIFM1, C10ORF2, CPT1A, DGUOK, EARS2, GBE1, GFM1, MPV17, NBAS, PNPLA2, SUCLG1, TRMU (13 Gene, 25 kb)

Mito­chon­dria­le DNA-Deple­ti­ons- und Dele­ti­ons­syn­dro­me (MIT05)

POLG, C10ORF2, TYMP, DGUOK, TK2, MPV17, FBXL4, SLC25A4, AGK, RRM2B, POLG2, SUCLA2, DNA2, SUCLG1, MGME1, RNASEH1, PARS2 (17 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Pyru­vat-Stoff­wech­sel-Erkran­kun­gen (MIT06)

PDHA1, DLD, TMEM70, PDHB, PDHX, DLAT, PDP1, MPC1, ATP5E (9 Gene, 10 kb)

Ein­sen­de­for­mu­lar

Kom­bi­nier­ter Defekt der oxi­da­ti­ven Phos­pho­ry­lie­rung (COXPD) (MIT07)

EARS2, AARS2, AIFM1, FARS2, MTFMT, RMND1, GFM1, GTPBP3, MTO1, YARS2, C12ORF65, MIPEP, TUFM, TSFM, NARS2, MRPS22 (16 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Kom­plex I-Defekt (MIT08)

ACAD9, NDUFV1, NDUFS1, NDUFS2, NDUFS8, NDUFS4, NDUFAF5, NDUFS7, NDUFAF2, FOXRED1, NDUFAF6, AIFM1, NDUFAF1, NDUFAF3, NDUFA1, NDUFA2, NDUFA4, NDUFA8, NDUFA10, NDUFS3, NUBPL, NDUFS6, NDUFV2, NDUFV3, MTFMT, TMEM126B, C10ORF2 (27 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Kom­plex II-Defekt (MIT09)

SDHD, SDHA, SDHAF1, FOXRED1, ISCU, NFS1 (6 Gene, 6 kb)

Ein­sen­de­for­mu­lar

Kom­plex III-Defekt (MIT10)

BCS1L, TTC19, NDUFS4, MT-CYB, LYRM7, UQCRB, UQCRQ, UQCRC2, CYC1, NFS1, UQCC2, UQCC3 (12 Gene, 9 kb)

Ein­sen­de­for­mu­lar

Kom­plex IV-Defekt (MIT11)

SCO2, ETHE1, COX10, APOPT1, AARS2, LRPPRC, COA3, COX4I1, COX4I2, COA5, COA6, COX6B1, COX14, COX15, COX20, FASTKD2, SCO1, PET100, SURF1, MT-CO1, MT-CO2, MT-CO3, MT-TS1, MT-TL1, TACO1, CEP89 (26 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Kom­plex V-Defekt (MIT12)

TMEM70, ATP5E, ATP5A1, ATPAF2, MT-ATP6, MT-ATP8 (6 Gene, 4 kb)

Ein­sen­de­for­mu­lar

CoQ10-Defi­zi­enz und Acyl-CoA-Dehy­dro­ge­na­se-Defekt (MAD-Man­gel) (MIT13)

ADCK3, ADCK4, COQ2, COQ4, COQ6, COQ7, COQ9, PDSS1, PDSS2, ANO10, APTX, ETFDH, ETFA, ETFB (14 Gene, 18 kb)

Ein­sen­de­for­mu­lar

Methyl­glut­aco­na­zi­du­rie (MGA) (MIT14)

TAZ, HMGCL, SUCLA2, SERAC1, CLPB, TMEM70, HTRA2, AGK, AUH, POLG, SDHA, DNAJC19, OPA3, C19ORF70, ATPAF2, ATP5E, TIMM50, MT-TL1

Ein­sen­de­for­mu­lar

MELAS- und MERRF-Syn­drom (MIT15)

MT-CO1, MT-CO2, MT-CYB, MT-ND1, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-TC, MT-TD, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, POLG (26 Gene, 13 kb)

Ein­sen­de­for­mu­lar

Pro­gres­si­ve exter­ne Oph­thal­mop­le­gie (PEO/CPEO) (MIT16)

OPA1, POLG, C10ORF2, RRM2B, TIMM8A, NR2F1, C12ORF65, SLC25A46, MGME1, SLC19A3, SLC25A4, ACO2, RNASEH1, MTPAP, TYMP, POLG2, TMEM126A (17 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Kom­plet­tes Panel — Mito­chon­drio­pa­thi­en (396 Gene)

AARS2, ABCB7, ABHD5, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AIFM1, ALDH4A1, ALDH6A1, AMACR, AMPD1, AMT, ANO10, APOPT1, APTX, ATAD3A, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C10ORF2, C12ORF65, C19ORF70, CA5A, CARS2, CCDC115, CDKL5, CEP89, CHCHD10, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA7, COASY, COG8, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX4I1, COX4I2, COX6B1, COX7B, COX8A, CPS1, CPT1A, CPT2, CYB5R3, CYC1, CYP11B2, CYP24A1, CYP27A1, CYP27B1, D2HGDH, DARS, DARS2, DBT, DDHD1, DGUOK, DHTKD1, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, DPAGT1, DPYD, EARS2, ECHS1, ECI1, ECSIT, EIF2AK3, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FDX1L, FH, FLAD1, FOXRED1, GAD1, GAMT, GARS, GATM, GBE1, GCDH, GCK, GCSH, GDAP1, GFAP, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GNPAT, GPAM, GTPBP3, GYG2, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IARS, IARS2, IBA57, IDH2, ISCA2, ISCU, ITPA, IVD, KIF5A, KLC2, L2HGDH, LAMP2, LARS, LARS2, LIAS, LIPT1, LMBRD1, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFF, MFN2, MGME1, MGST3, MICU1, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRRF, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MTO1, MTPAP, MT-RNR1, MT-RNR2, 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-TT, MT-TV, MT-TW, MT-TY, MUT, NADK2, NAGS, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA8, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB1, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NFU1, NIPSNAP1, NIPSNAP3A, NPL, NR2F1, NSUN3, NUBPL, NUP62, OAT, OFD1, OGDH, OPA1, OPA3, OTC, OXCT1, PANK2, PARP10, PARS2, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PHYH, PIGQ, PLA2G6, PNPLA2, PNPLA4, PNPT1, POLG, POLG2, PPA2, PPOX, PTCD1, PUS1, PYCR1, PYGM, QRSL1, RANBP2, RARS2, REEP1, RMND1, RNASEH1, RRM2B, RTN4IP1, RYR1, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDHA, SDHAF1, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC24A4, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A4, SLC25A46, SLC33A1, SLC35G2, SLC39A8, SLC52A2, SLC6A8, SPAST, SPG20, SPG7, STXBP1, SUCLA2, SUCLG1, SUGCT, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TFAM, TFG, TIMM50, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TSFM, TTC19, TUFM, TXN2, TYMP, UGT1A1, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WFS1, WWOX, XPNPEP3, YARS2, YME1L1

Ein­sen­de­for­mu­lar