(0621) 42286-0
(0621) 42286-88

Multigen-Diagnostik

Nukleär-kodierte mitochondriale Erkrankungen

Panelnummer: ID704.01

Gene (312)

AARS2 ABCB7 ACAD8 ACAD9 ACADM
ACADS ACADSB ACADVL ACAT1 ACO2
AFG3L2 AGK AIFM1 AK2 ALAS2
ALDH4A1 ALDH6A1 AMACR AMT ANO10
APTX ATL1 ATP5F1A ATP5F1D ATP5F1E
ATP5MK ATPAF2 AUH BCAT2 BCKDHA
BCKDHB BCS1L BOLA3 BTD C1QBP
CARS2 CISD2 COA3 COA5 COA6
COA8 COQ2 COQ4 COQ5 COQ6
COQ7 COQ8A COQ8B COQ9 COX10
COX14 COX15 COX20 COX4I2 COX5A
COX6A2 COX6B1 CPS1 CPT1A CPT2
CYB5R3 CYC1 CYCS CYP27A1 D2HGDH
DARS2 DBT DECR1 DGUOK DHODH
DIABLO DLAT DLD DMGDH DNA2
DNAJC19 DNM1L EARS2 ELAC2 ERCC6
ETFA ETFB ETFDH ETHE1 FARS2
FASTKD2 FBP1 FBXL4 FH FOXRED1
FXN GAMT GARS1 GATB GATC
GATM GCDH GCK GCSH GDAP1
GFER GFM1 GFM2 GK GLDC
GLRX5 GLUD1 GTPBP3 HADH HADHA
HADHB HARS2 HCCS HIBCH HK1
HLCS HMGCL HMGCS2 HOGA1 HSD17B10
HSPD1 HTRA2 IDH1 IDH2 IDH3B
ISCU IVD KARS1 KIF1B KIF5A
L2HGDH LARS2 LIAS LRPPRC LYRM4
LYRM7 MAOA MARS2 MCCC1 MCCC2
MCEE MFN2 MGME1 MICOS13 MIEF2
MIPEP MLYCD MMAA MMAB MMADHC
MMUT MPV17 MRM2 MRPL12 MRPL3
MRPL44 MRPS14 MRPS16 MRPS2 MRPS22
MRPS23 MRPS25 MRPS28 MRPS34 MRPS7
MTFMT MTO1 MTPAP MTRFR NAGS
NARS2 NDUFA1 NDUFA10 NDUFA11 NDUFA12
NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9
NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5
NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3
NDUFB8 NDUFB9 NDUFS1 NDUFS2 NDUFS3
NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1
NDUFV2 NFU1 NSUN3 NUBPL OAT
OPA1 OPA3 OTC OXCT1 PANK2
PARK7 PC PCCA PCCB PCK2
PDHA1 PDHB PDHX PDP1 PDSS1
PDSS2 PET100 PET117 PINK1 PNKD
PNPLA2 PNPT1 POLG POLG2 PPOX
PRKN PTCD3 PUS1 QRSL1 RARS2
REEP1 RMND1 RMRP RNASEH1 RRM2B
SACS SAMHD1 SARS2 SCO1 SCO2
SDHA SDHAF1 SDHAF2 SDHB SDHC
SDHD SFXN4 SLC19A2 SLC19A3 SLC22A5
SLC25A10 SLC25A12 SLC25A13 SLC25A15 SLC25A19
SLC25A20 SLC25A21 SLC25A22 SLC25A26 SLC25A3
SLC25A38 SLC25A4 SLC33A1 SLC6A8 SPART
SPAST SPG7 STAR SUCLA2 SUCLG1
SURF1 TACO1 TAFAZZIN TARS2 TFAM
TIMM22 TIMM8A TIMMDC1 TK2 TMEM126A
TMEM126B TMEM70 TOP3A TPK1 TRIT1
TRMT10C TRMT5 TRMU TSFM TTC19
TUFM TWNK TXN2 TYMP UNG
UQCC2 UQCC3 UQCRB UQCRC2 UQCRFS1
UQCRQ VARS2 WFS1 WWOX XPNPEP3
YARS2 YWHAE

Akkreditiertes Verfahren: ja

Methodik

Mittels Next-Generation-Sequencing (NGS) werden die o. g. Gene parallel analysiert (DNA-Sequenz, ggf. Kopienzahlvariation (CNV)).

Als Bestätigungsanalyse kann ggf. eine Sanger-Sequenzanalyse bzw. eine MLPA-Analyse (Multiplex-Ligation-dependent-Product-Amplification) durchgeführt werden.

Diagnostik

Gen-Panel: ID704.01, 312 Gene (406,1 kb)

AARS2, ABCB7, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, AFG3L2, AGK, AIFM1, AK2, ALAS2, ALDH4A1, ALDH6A1, AMACR, AMT, ANO10, APTX, ATL1, ATP5F1A, ATP5F1D, ATP5F1E, ATP5MK, ATPAF2, AUH, BCAT2, BCKDHA, BCKDHB, BCS1L, BOLA3, BTD, C1QBP, CARS2, CISD2, COA3, COA5, COA6, COA8, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX5A, COX6A2, COX6B1, CPS1, CPT1A, CPT2, CYB5R3, CYC1, CYCS, CYP27A1, D2HGDH, DARS2, DBT, DECR1, DGUOK, DHODH, DIABLO, DLAT, DLD, DMGDH, DNA2, DNAJC19, DNM1L, EARS2, ELAC2, ERCC6, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBP1, FBXL4, FH, FOXRED1, FXN, GAMT, GARS1, GATB, GATC, GATM, GCDH, GCK, GCSH, GDAP1, GFER, GFM1, GFM2, GK, GLDC, GLRX5, GLUD1, GTPBP3, HADH, HADHA, HADHB, HARS2, HCCS, HIBCH, HK1, HLCS, HMGCL, HMGCS2, HOGA1, HSD17B10, HSPD1, HTRA2, IDH1, IDH2, IDH3B, ISCU, IVD, KARS1, KIF1B, KIF5A, L2HGDH, LARS2, LIAS, LRPPRC, LYRM4, LYRM7, MAOA, MARS2, MCCC1, MCCC2, MCEE, MFN2, MGME1, MICOS13, MIEF2, MIPEP, MLYCD, MMAA, MMAB, MMADHC, MMUT, MPV17, MRM2, MRPL12, MRPL3, MRPL44, MRPS14, MRPS16, MRPS2, MRPS22, MRPS23, MRPS25, MRPS28, MRPS34, MRPS7, MTFMT, MTO1, MTPAP, MTRFR, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB10, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NSUN3, NUBPL, OAT, OPA1, OPA3, OTC, OXCT1, PANK2, PARK7, PC, PCCA, PCCB, PCK2, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PET117, PINK1, PNKD, PNPLA2, PNPT1, POLG, POLG2, PPOX, PRKN, PTCD3, PUS1, QRSL1, RARS2, REEP1, RMND1, RMRP, RNASEH1, RRM2B, SACS, SAMHD1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A10, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC33A1, SLC6A8, SPART, SPAST, SPG7, STAR, SUCLA2, SUCLG1, SURF1, TACO1, TAFAZZIN, TARS2, TFAM, TIMM22, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TSFM, TTC19, TUFM, TWNK, TXN2, TYMP, UNG, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRFS1, UQCRQ, VARS2, WFS1, WWOX, XPNPEP3, YARS2, YWHAE

* auch als Einzelgen-Diagnostik mittels Sanger-Sequenzierung verfügbar
** auch als Einzelgen-Diagnostik mittels MLPA-Analyse verfügbar

Material

3 - 5 ml EDTA-Blut

Dauer

4 - 6 Wochen

Kosten

Die Kosten werden bei bestehender medizinischer Indikation über einen Überweisungsschein Typ 10 (EBM) abgerechnet. Humangenetische Leistungen sind nicht budgetrelevant.

Für privatversicherte Patienten sowie private Kostenträger (Krankenhäuser etc.) können auf Wunsch entsprechende Kostenvoranschläge erstellt werden.  


Stand: 28.06.2022