Multigen-Diagnostik

Panelnummer: ID704.01

Gene (312)

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