Genetica AG

Humangenetisches Labor
& Genetische Beratungsstelle

Genpanel Diagnostik

Genpanel Diagnostik
TumorerkrankungenFortpflanzungsmedizin / KinderwunschGastroenterologische ErkrankungenLungenerkrankungenHauterkrankungenAutoinflammatorische ErkrankungenNeurogenetikSensorische Erkrankungen (Ohr/Auge)Herz-/BindegewebserkrankungenEntwicklungsstörungen/SyndromeStoffwechselerkrankungenNierenerkrankungen/EndokrinologiePharmakogenetik
Auftragsformular Tumorerkrankungen
BRCA Standard
BRCA1, BRCA2
Bei unauffälligem Befund, Erweiterung auf BRCA PLUS HBOC (kostenneutral)
BRCA PLUS Mamma
BRCA1, BRCA2, ATM, CDH1, CHEK2, PALB2, PTEN, STK11, TP53
Bei unauffälligem Befund, Erweiterung auf BRCA PLUS HBOC (kostenneutral)
BRCA PLUS Ovar
BRCA1, BRCA2, BRIP1, EPCAM (3’UTR), MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, RAD51D
Bei unauffälligem Befund, Erweiterung auf BRCA PLUS HBOC (kostenneutral)
BRCA PLUS HBOC
BRCA1, BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, EPCAM (3’UTR), MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53
Polygenic Risk Score
(PRS313) (keine kassenpflichtige Leistung)
Häufigste Ashkenazi-Mutationen
BRCA1:c.68_69delAG; BRCA1:c.5266dupC; BRCA2:c.5946delT
Colonkarzinom (Lynch-Syndrom und Familiäre Adenomatöse Polyposis)
APC, BMPR1A, CHEK2, EPCAM (3’UTR), GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
Magenkarzinom
APC, CDH1, CHEK2, EPCAM (3’UTR), MLH1, MSH2, MSH6, MUTYH, PMS2, TP53
Pankreaskarzinom
BRCA1, BRCA2, CDKN2A, PALB2
Melanom
BAP1, BRCA2, CDK4, CDKN2A, MITF, TERT (Promotor)
Prostatakarzinom
BRCA1, BRCA2, ATM, CHEK2, EPCAM (3’UTR), HOXB13, MSH2, MSH6, PALB2, PMS2, RAD51C, RAD51D
Nierenkarzinom
CHEK2, EPCAM (3’UTR), FH, FLCN, GPC3, HRPT2, MET, MLH1, MSH2, MSH6, PMS2, PTEN, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1
Phäochromozytom-Paragangliom-Syndrom (Multiple Endokrine Neoplasie – MEN)
FH, MAX, MEN1, NF1, PRKAR1A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
Goltz-Gorlin-Syndrom
PTCH1, PTCH2, SUFU
Neurofibromatose Typ 1 (Basalzellkarzinom)
NF1
Phakomatosen ( inkl. Neurofibromatosen )
ATM, NF1, NF2, SPRED1, STK11, TSC1, TSC2, VHL
Retinoblastom
RB1
Schwannomatose
NF2, LZTR1, SMARCB1
Tuberöse Sklerose
TSC1, TSC2
Wilms-Tumor
WT1
Auftragsformular Fortpflanzungsmedizin / Kinderwunsch

Unfruchtbarkeit

Habituelle Aborte (zwingend Heparin-Blut)
Konventinelle Karyotypisierung
Klinefelter Syndrom (zwingend Heparin-Blut)
Konventinelle Karyotypisierung
Azoospermie / Yq-Mikrodeletion
AZFa-c
Congenitale Aplasie Vas deferens (CAVD)
CFTR
(~ 1 Gen)
FMR1-assoziierte prämature Ovarialinsuffizienz
FMR1 (Repeat)
(~ 1 Gen)
Adrenogenitales Syndrom (AGS)
CYP17A1, CYP21A2, H3D3B2, STAR
(~ 4 Gene)
Prämature Ovarialinsuffizienz (inkl. BPE-Syndrom)
BMP15, CBX2, DHH, DIAPH2, ERCC6, FANCM, FIGLA, FLJ22792, FOXL2, GDF9, HFM1, MCM8, MSH5, NOBOX, NR0B1, NR5A1, STAG3, SYCE1(~ 18 Gene)
Hypergonadotroper Hypogonadismus
AKR1C2, AKR1C4, ALMS1, AMACR, BMPR1B, CBX2, CLPP, CTDP1, CYB5A, CYP17A1, CYP19A1, DCAF17, DHH, DMRT3, FANCA, FANCC, FANCD2, FANCE, GALT, GATA4, GNAS, LHCGR, LMNA, MAP3K1, MGME1, NR5A1, PMM2, POLG, RIN2, SAMD9, SCP2, SIL1, SLC29A3, SOX9, SRY, TWNK, WT1, ZBTB20, ZFPM2(~ 38 Gene)
Hypogonadotroper Hypogonadismus und Kallmann-Syndrom
ANOS1, ARNT2, AXL, CCDC141, CDON, CGA, CHD7, CUL4A, CUL4B, DCC, DMXL2, DUSP6, FARP2, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, FURIN, GNRH1, GNRH2, GNRHR, GPR161, HESX1, HS6ST1, IGSF10, IL17RD, INHBA, KISS1, KISS1R, LEP, LEPR, LHB, LHX2, LHX3, LHX4, LIFR, MKRN3, NPFFR1, NPVF, NPY, NR0B1, NRP1, NRP2, NSMF, NTN1, OPRK1, OTUD4, OTX2, PCSK1, PCSK2, PDYN, PLXNA1, PLXNC1, PNPLA6, POLR3B, POU1F1, POU2F1, POU3F2, PRLR, PROK2, PROKR2, PROP1, RNF216, ROBO3, SEMA3A, SEMA3E, SEMA7A, SHH, SIRT1, SIX6, SLIT2, SLIT3, SOX10, SOX2, SOX3, SPRY4, SRA1, STUB1, TAC1, TAC3, TACR1, TACR2, TACR3, TENM1, TGIF1, TSHZ1, WDR11, ZIC1(~ 90 Gene)

Trägerschaft Abklärung im Rahmen der Familienplanung

Trägerschaft für Zystische Fibrose
CFTR
(~ 1 Gen)
Trägerschaft für Spinale Muskelatrophie (SMA)
SMN1
(~ 1 Gen)
Trägerschaft für fragiles X-Syndrom
FMR1
(~ 1 Gen)
Heterozygoten-Screening (schwere rezessive Erkrankungen)
AAAS, ABCA12, ABCB11, ABCD1, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACE, ACOX1, ADA, ADAMTS13, ADAMTS2, ADAMTSL2, AGA, AGL, AGPS, AGT, AGTR1, AGXT, AHI1, AIRE, ALDH3A2, ALDH5A1, ALDOB, ALG1, ALG6, ALMS1, ALPL, ALS2, ALS2, AMACR, AMPD1, AMT, ANTXR2, ANTXR2, APTX, APTX, AR, ARSA, ARSB, ARSE, ARX, ARX, ARX, ASL, ASPA, ASS1, ATIC, ATM, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCS1L, BCS1L, BLM, BMPR2, BTD, BTK, C10ORF2, C10ORF2, CA2, CABC1, CBS, CD40LG, CD96, CD96, CDH23, CDKL5, CEP290, CFP, CFTR, CHM, CHRNA1, CHRND, CHRNG, CHRNG, CLDN1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLN8, CLRN1, CNGB3, COL11A2, COL17A1, COL1A2, COL2A1, COL4A3, COL4A4, COL7A1, COQ2, CPS1, CPS1, CPT1A, CPT2, CPT2, CPT2, CRLF1, CRTAP, CSTB, CTNS, CTNS, CTNS, CTSD, CTSK, CYP11A1, CYP21A2, CYP27A1, CYP27B1, D2HGDH, DCLRE1C, DCX, DDB2, DDC, DGUOK, DHCR24, DHCR7, DKC1, DLD, DLL3, DMD, DMD, DMP1, DNAJC19, DNMT3B, DOLK, DPAGT1, DPM1, DPYD, DSP, DSP, EDA, EDN3, EDNRB, EDNRB, EFEMP2, EGR2, EGR2, EIF2AK3, ENPP1, EPM2A, ERBB3, ERCC2, ERCC2, ERCC3, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, F11, F5, FAH, FAM126A, FAM20C, FANCB, FBLN5, FGA, FGB, FGD4, FGFR2, FGG, FH, FKRP, FKRP, FKTN, FLNA, FOXN1, FOXP3, FRAS1, FREM2, FUCA1, G6PC3, G6PD, GAA, GALC, GALT, GATA1, GBA, GBA, GBA, GBA, GBE1, GCDH, GCSH, GFM1, GJA1, GJB2, GJC2, GLA, GLB1, GLB1, GLDC, GLE1, GLI3, GNE, GNPTAB, GNPTAB, GNS, GPR98, GRHPR, GSS, GTF2H5, GUSB, HADH, HADHA, HADHA, HADHB, HAMP, HBA1, HBB, HBB, HESX1, HEXA, HEXB, HFE, HFE2, HFE2, HGD, HGSNAT, HIBCH, HMGCL, HPRT1, HSD17B10, HSD17B4, HSPG2, HYLS1, IDUA, IGBP1, IGF1, IGHMBP2, IKBKAP, IKBKG, IKBKG, IL2RG, IL2RG, INSR, INVS, IQCB1, ITGA6, ITGB4, ITGB4, IVD, JAK3, KCNJ1, KCNQ1, KCTD7, KRT18, KRT8, L1CAM, L1CAM, L1CAM, LAMA2, LAMA3, LAMA3, LAMA3, LAMB2, LAMB3, LAMB3, LAMC2, LAMC2, LARGE, LBR, LEPRE1, LHX3, LIFR, LMNA, LRP2, LRP5, LRPPRC, LYST, MAN2B1, MAPK10, MCCC2, MCOLN1, MECP2, MECP2, MECP2, MED12, MEFV, MFSD8, MGAT2, MKS1, MLC1, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPI, MPL, MPV17, MPV17, MPZ, MPZ, MRPS16, MRPS22, MTHFR, MTM1, MTTP, MUT, MUTYH, MVK, MYO5A, MYO5A, MYO7A, MYO7A, NAGA, NAGS, NBN, NDP, NEB, NEU1, NEUROG3, NHLRC1, NPC1, NPC2, NPHP1, NPHP1, NPHP1, NPHP3, NPHP4, NPHS1, NR0B1, NTRK1, NUP62, OCRL, OFD1, OPA3, OSTM1, OTC, PAH, PAX6, PC, PCDH15, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PEX7, PKHD1, PKLR, PLA2G6, PLCE1, PLEC1, PLEKHG5, PLG, PLOD1, PLP1, PLP1, PMM2, PMP22, PNPO, POLG, POMGNT1, POMT1, POMT2, POU1F1, PPT1, PQBP1, PREPL, PRKAG2, PRKAR1A, PROC, PROP1, PRPS1, PRX, PSAP, PSAP, PSAP, PSAT1, PTH1R, RAB23, RAB27A, RAB3GAP1, RAB3GAP2, RAG1, RAG1, RAG2, RAG2, RAPSN, RELN, REN, RMRP, RMRP, RPGRIP1L, RS1, SACS, SBDS, SC5DL, SCNN1A, SCNN1B, SCNN1G, SCO2, SEPN1, SERPINA1, SFTPA1, SFTPB, SFTPB, SFTPC, SGCA, SGSH, SH2D1A, SIL1, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC17A5, SLC25A15, SLC25A22, SLC26A2, SLC26A2, SLC26A2, SLC26A4, SLC34A2, SLC35A1, SLC35C1, SLC35D1, SLC37A4, SLC37A4, SLC3A1, SLC4A11, SLC6A8, SLC9A6, SMN1, SMN1, SMN1, SMPD1, SMPD1, SNAP29, SOX10, SOX10, SP110, ST3GAL5, STAR, STRA6, STXBP1, SUCLG1, SUOX, TAZ, TAZ, TBCE, TBCE, TCIRG1, TFR2, TGM1, TH, TIMM8A, TK2, TMEM67, TNFRSF11B, TNNT1, TPP1, TREX1, TRIM37, TSEN54, TSEN54, TSFM, TSHB, TSPYL1, TTN, TTPA, UBA1, UBR1, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, VDR, VLDLR, VPS13B, VPS33B, WAS, WNT10A, WNT3, WNT7A, WNT7A, WT1, XPA, XPA, ZIC3, ZMPSTE24, ZMPSTE24, ZNF469(~ 507 Gene)

PRÄNATALDIAGNOSTIK

Konventionelle Pränataldiagnostik ( vgl. PRAE-Auftragsformular )
Konventionelle Pränataldiagnostik ( vgl. PRAE-Auftragsformular )
Erweiterte fetale Exom-Abklärung bei sonografischen Auffälligkeiten nach unauffälliger Pränataldiagnostik ( Genetische Beratung nötig )
Erweiterte fetale Exom-Abklärung bei sonografischen Auffälligkeiten nach unauffälliger Pränataldiagnostik ( Genetische Beratung nötig )
Auftragsformular Gastroenterologische Erkrankungen
Alagille-Syndrom
JAG1, NOTCH2
(~ 2 Gene)
Progressive familiäre intrahepatische Cholestase (inkl. Schwangerschaftscholestase und benigne intrahepatische rekurrente Cholestase)
ABCB11, ABCB4, ABCB4, ATP8B1, ATP8B1, NR1H4, SLC25A13, TRMU
(~ 8 Gene)
Gallensäuresynthesedefekt
ABCD3, ACOX2, AKR1D1, AMACR, CYP7B1, HSD3B7
(~ 6 Gene)
Pankreatitis, hereditäre
CFTR, CPA1, CTRC, KRT8, PRSS1, PRSS2, SPINK1
(~ 7 Gene)
Hämochromatose
HFE (häufigste Mutationen)
(~ 1 Gen)
Hämochromatose gesamtes Panel
BMP2, FTH1, HAMP, HFE, HJV, SLC40A1, TFR2
(~ 7 Gene)
Parenchymaler Leberschaden gesamtes Panel (inkl. Metabolische Lebererkrankungen)
ABCB11, ABCB4, ABCC2, ABCD3, ABCG5, ABCG8, ADK, AGL, AIRE, AKR1D1, ALDOB, AMACR, AQP8, ATP7B, ATP8B1, BAAT, BCS1L, CCBE1, CFC1, CFTR, CPT1A, CTC1, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DKC1, DLD, EPHX1, FAH, FARS2, FBP1, GAA, GALE, GALT, GBE1, GFM1, GPBAR1, GYG1, GYS2, HMGCL, HMGCS2, HNF1A, HNF1B, HSD17B4, HSD3B7, JAG1, KCNN3, KEAP1, MPV17, MYO5B, NBAS, NOTCH1, NOTCH2, NR1H4, OXCT1, PHKA2, PHKB, PHKG2, PKHD1, POLG, PRKCSH, PRSS1, PYGL, RAB11A, RDX, RFNG, RTEL1, SCO1, SEC63, SERAC1, SI, SKIV2L, SLC10A1, SLC10A2, SLC22A5, SLC25A13, SLC25A20, SLC27A5, SLC2A2, SLC2A5, SLC30A10, SLC40A1, SLC4A2, SLC5A1, SLCO1B1, SLCO1B3, SPINK1, TALDO1, TERC, TERT, TJP2, TRMU, TTC37, TUFM, TWNK, UGT1A1, UTP4, VIL1, VIPAS39, VPS33B(~ 102 Gene)
Chronisch-entzündliche Darmerkrankungen (inkl. Infantile Enterokolitis)
ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AP1S3, BTK, CARD14, CASP1, CD3G, CD40LG, COL7A1, COPA, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DOCK8, EPCAM, FAS, FASLG, FBLIM1, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IFIH1, IKBKG, IL10, IL10RA, IL10RB, IL1RN, IL2RA, IL2RG, IL36RN, ITGB2, LACC1, LIG4, LPIN2, LRBA, LYN, MDFIC, MEFV, MVK, NCF1, NCF2, NCSTN, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PIK3CD, PLCG2, POMP, PRF1, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTEN, PYCARD, RAG1, RAG2, RBCK1, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, RTEL1, SAMD9, SAMHD1, SERPING1, SH2D1A, SH3BP2, SKIV2L, SLC29A3, SLC37A4, STAT1, STAT3, STXBP2, TGFBR1, TGFBR2, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TNFRSF9, TREX1, TRNT1, TTC37, TTC7A, WAS, WDR1, XIAP(~ 106 Gene)
Auftragsformular Lungenerkrankungen
Alpha 1-Antitrypsin-Mangel
SERPIN1A
(~ 1 Gen)
Cystische Fibrose
CFTR (häufigste Mutationen)
(~ 1 Gen)
Cystische Fibrose
CFTR (vollständige Sequenzierung)
(~ 1 Gen)
Pulmonal primäre arterielle Hypertonie
ACVRL1, ATP13A, BMPR2, CAV1, EIF2AK4, ENG, GDF2, KCNK3, SOX17, SMAD9, TBX14(~ 11 Gene)
Idiopatische Lungenfibrose (inkl. Telomeropathien)
ABCA3, AP3B1, ASAH1, CSF2RA, CSF2RB, DKC1, FAM111B, GBA, HPS1, HPS4, ITGA3, MUC5B, NKX2-1, PARN, RTEL1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, TERC, TERT, TINF2(~ 24 Gene)
Kindliche Interstitielle Lungenerkrankungen (Surfactant-Metabolismus-Störung und DD)
ABCA3, COPA, CSF2RA, CSF2RB, FOXF1, MARS, NKX2-1, NPC1, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC7A7, SMPD1, TERC, TERT(~ 17 Gene)
Familiärer Pneumothorax
COL3A1, FBN1, FLCN, SERPINA1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TSC1, TSC2(~ 12 Gene)
Auftragsformular Hauterkrankungen
Kongenitale Ichthyose (isoliert und syndromal)
AAGAB, ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AQP5, CASP14, CAST, CERS3, CYP4F22, DSC2, DSG1, DSP, EBP, ENPP1, ERCC2, ERCC3, FLG, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2E2, GTF2H5, JUP, KDSR, KRT1, KRT10, KRT14, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, LIPN, MPLKIP, NIPAL4, PNPLA1, RHBDF2, RNF113A, RSPO1, SDR9C7, SERPINB7, SLC27A4, SLURP1, SNAP29, SPINK5, ST14, STS, SULT2B1, TAT, TGM1, TRPV3(~ 56 Gene)
Ektodermale Dysplasie
APCDD1, CDH3, CDSN, DSG4, EDA, EDAR, EDARADD, GJB6, HOXC13, HR, IKBKG, KRT14, KRT74, KRT85, LIPH, LPAR6, MBTPS2, MSX1, NECTIN1, NECTIN4, NFKB2, NFKBIA, PKP1, PORCN, RMRP, TP63, TSPEAR, WNT10A(~ 28 Gene)
Epidermolysis bullosa
CD151, COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5(~ 21 Gene)
Cutis laxa
ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
(~ 7 Gene)
Auftragsformular Autoinflammatorische Erkrankungen
Hereditäre periodische Fieber
MEFV, MVK, NLRP3, TNFRS1A
(~ 4 Gene)
Autoinflammatorische Erkrankungen
ACP5, ADA, ADA2, ADAM17, ADAR, AICDA, AP1S3, BTK, CARD14, CASP1, CD3G, CD40LG, COL7A1, COPA, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DOCK8, EPCAM, FAS, FASLG, FBLIM1, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IFIH1, IKBKG, IL10, IL10RA, IL10RB, IL1RN, IL2RA, IL2RG, IL36RN, ITGB2, LACC1, LIG4, LPIN2, LRBA, LYN, MDFIC, MEFV, MVK, NCF1, NCF2, NCSTN, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PIK3CD, PLCG2, POMP, PRF1, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMG2, PSTPIP1, PTEN, PYCARD, RAG1, RAG2, RBCK1, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, RTEL1, SAMD9, SAMHD1, SERPING1, SH2D1A, SH3BP2, SKIV2L, SLC29A3, SLC37A4, STAT1, STAT3, STXBP2, TGFBR1, TGFBR2, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TNFRSF9, TREX1, TRNT1, TTC37, TTC7A, WAS, WDR1, XIAP(~ 106 Gene)
Hereditäre Immunschwäche
ACD, ACP5, ACTB, ACTN1, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP3B1, AP3D1, APOL1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD244, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CEBPE, CFB, CFD, CFH, CFHR1, CFI, CFP, CHD7, CIB1, CIITA, CLPB, COLEC11, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DKC1, DNAJC21, DNASE2, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, ERBIN, ERCC6L2, EXTL3, F12, FADD, FAS, FASLG, FAT4, FCN3, FERMT3, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GATA1, GATA2, GFI1, GINS1, HAX1, HELLS, HTRA2, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL18, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RG, IL36RN, IL7R, INO80, IRAK4, IRF1, IRF3, IRF4, IRF7, IRF8, ISG15, ITCH, ITGAX, ITGB2, ITK, JAGN1, JAK3, KRAS, LAMTOR2, LAT, LCK, LIG4, LIPA, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP1, MASP2, MBL2, MCM4, MEFV, MKL1, MOGS, MPO, MRE11, MS4A1, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NFAT5, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, ORAI1, OTULIN, PARN, PCNA, PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLA1, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPN6, PTPRC, RAB27A, RAC1, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNF168, RNF31, RORC, RPSA, RTEL1, SAMHD1, SBDS, SERPING1, SGPL1, SH2D1A, SH3BP2, SHARPIN, SKIV2L, SLC11A1, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SMARCAL1, SP110, SPINK5, SPPL2A, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TADA2A, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF3, TCN2, TERC, TERT, TFRC, TGFBR1, TGFBR2, THBD, TICAM1, TIFA, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF12, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, XIAP, XRCC4, ZAP70, ZBTB24(~ 326 Gene)
Hereditäres Angioödem
SERPING1
(~ 1 Gen)
Inherited Bone Marrow Failure (IMF)
ACD, ACTB, ACTG1, ANKRD26, ARID1A, ARID1B, ATG2B, ATM, BLM, BRAF, BRCA1, BRCA2, BRIP1, BTK, CBL, CDKN2A, CEBPA, CREBBP, CSF3R, CTC1, DDB2, DDX11, DDX41, DKC1, ELANE, EP300, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ETV6, EZH2, FAM111B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FERMT1, G6PC3, GATA1, GATA2, GATA3, GFI1, GSKIP, HAX1, HDAC8, HRAS, IKZF1, KIT, KRAS, LIG4, LZTR1, MAP2K2, MLH1, MPL, MRE11, MSH2, MSH6, NBN, NF1, NHEJ1, NHP2, NIPBL, NOP10, NRAS, NSD1, PALB2, PARN, PAX5, PGM3, PHF6, PMS2, POLH, PTPN11, RAD21, RAD50, RAD51C, RAF1, RASA1, RASA2, RBM8A, RECQL4, RIT1, RMRP, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, RRAS, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SH2B3, SHOC2, SLX4, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SOS1, SOS2, SPRED1, SRP72, STAT3, TERC, TERT, THPO, TINF2, TINF2, TMEM173, TP53, TYK2, USB1, WAS, WRAP53, WRN, XPA, XPC(~ 144 Gene)
Auftragsformular Neurogenetik

Bewegungsstörungen

Friedreich Ataxie
FXN
(~ 1 Gen)
FXTAS (Fragiles-X-Tremor-Ataxie-Syndrom)
FMR1
(~ 1 Gen)
Spinocerebelläre Ataxien, Repeaterkrankungen
ATN1 (DRPLA), ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), ATXN7 (SCA7), ATXN8OS (SCA8), ATXN8 (SCA8), CACNA1A (SCA6), PPP2R2B (SCA12), TBP (SCA17)(~ 11 Gene)
Ataxie, hereditäres
AARS2, ABCB7, ABHD12, ABHD5, ACADVL, ACO2, ADCK3, AFG3L2, AHI1, ALDH5A1, ALG6, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATM, ATP1A3, ATP7B, ATP8A2, AUH, BEAN1, BSCL2, BTD, C10orf2, CA8, CACNA1A, CACNA1G, CACNB4, CC2D2A, CCDC88C, CEP290, CLCN2, CLN5, CLN6, COQ2, COQ9, CP, CSTB, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FASTKD2, FGF14, FLVCR1, FOLR1, FXN, GALC, GBA, GCDH, GFAP, GJB1, GLB1, GOSR2, GPR56, GRM1, HCN1, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, L2HGDH, LAMA1, LMNB2, MARS2, MRE11A, MTPAP, MTTP, NAGLU, NDUFS7, NEU1, NHLRC1, NKX2-1, NPC1, NPC2, NPHP1, NUBPL, OPA1, OPA3, PAX6, PDHX, PDP1, PDSS1, PDSS2, PDYN, PEX10, PEX2, PEX7, PHYH, PIK3R5, PLA2G6, PMM2, PMPCA, PNKP, PNPLA6, POLG, POLH, POLR1C, POLR3A, POLR3B, PRICKLE1, PRKCG, PRPS1, PRRT2, RELN, RNF170, RPGRIP1L, RPIA, SACS, SCN2A, SETX, SIL1, SLC17A5, SLC19A3, SLC1A3, SLC6A1, SPG7, SPR, SPTBN2, SYNE1, SYT14, TDP1, TGM6, TMEM216, TMEM67, TPP1, TSEN54, TSFM, TTBK2, TTC19, TTPA, UCHL1, UQCRQ, VLDLR, VRK1, WDR81, WFS1, WWOX, XPA, XPC, ZNF592(~ 161 Gene)
Chorea Huntington
HTT (Repeat)
(~ 1 Gen)
Huntington like disease Syndrome
JPH3, TBP, ATN1 (Repeat)
(~ 3 Gene)
Dystonie und Parkinson
ADCY5, ANO3, ATP13A2, ATP1A3, CACNA1B, COL6A3, DCTN1, DNAJC12, DNAJC6, ECHS1, FBXO7, GBA, GCH1, GNAL, GRN, HPCA, KCTD17, KMT2B, LRRK2, MAPT, MECR, MR1, PARK7, PINK1, PRKN, PRKRA, PRRT2, RAB39B, SGCE, SLC2A1, SLC30A10, SLC6A3, SNCA, SPR, TAF1, TH, THAP1, TOR1A, TUBB4A, VPS35(~ 40 Gene)
Neurodegeneration mit Eisenspeicherung (NBIA)
ATP13A2, C19orf12, COASY, FTL, PANK2, PLA2G6, WDR45
(~ 7 Gene)

Migräne – paroxysmale neurologische Erkrankungen

Periodische Paralysen / familiäre hemiplegische Migräne
CACNA1A, ATP1A2, ATP1A3, SCN1A, SCN8A
(~ 5 Gene)
Hyperekplexie
ARHGEF9, ATAD1, GLRA1, GLRB, SLC6A5
(~ 5 Gene)

Amyotropische Lateralsklerose und frontotemporale Demenz

Amyotrophische Lateralsklerose und frontotemporale Demenz
C9orf72 (Repeat)
(~ 1 Gen)
Gesamtes Panel
ALS2, ANG, ATXN2, CHMP2B, CSF1R, CXCR4, DCTN1, EGFR, ERBB4, FIG4, FUS, GBA, GLDC, GRN, ITM2B, KIF5A, MAPT, MATR3, NEFH, NEK1, NOTCH3, OPTN, PFN1, PRNP, PRPH, PSEN1, PSEN2, SETX, SIGMAR1, SOD1, SPG11, SQSTM1, TARDBP, TBK1, TREM2, UBQLN2, VAPB, VCP(~ 38 Gene)

Arteriopathien mit Leuenzephalopatie

CADASIL
NOTCH3 (Hotspot Mutationen)
(~ 1 Gen)
CADASIL und DD (inkl. COL4A1 und COL4A2)
COL4A1, COL4A2, HTRA1, NOTCH3, TREX1
(~ 5 Gene)

Subakute sklerosierende Panenzephalitis

RANBP2-assoziierte Panenzephalitis
RANBP2 (häufigste Mutationen)
(~ 1 Gen)
Subakute Panenzephalitis, hereditäres
CPT2, IRF3, RANBP2, TBK1, TICAM1, TLR3, TRAF3, UNC93B1
(~ 8 Gene)

Leukodystrophien

Gesamtes Panel (inkl. Aicardi-Goutières-Syndrom, Metachromatische Leukodystrophie, Krabbe-Syndrom und Alexander-Syndrom)
AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, ALS2, AMACR, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ARSA, ARSI, ASPA, ATL1, BCAP31, BCS1L, BICD2, CACNA1A, CARS, CARS2, CD59, CIC, CLCN2, CNTNAP1, COL4A1, COL4A2, COQ2, COQ8A, COX10, COX15, CRCP, CSF1R, CTC1, CYP27A1, CYP7B1, D2HGDH, DARS, DARS2, DDHD2, DGUOK, DPYD, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC6, ERCC8, ERLIN1, ERLIN2, ETFDH, FA2H, FAAH2, FAM126A, FARS2, FKRP, FKTN, FLRT1, FLVCR2, FOLR1, FUCA1, GALC, GARS, GBE1, GFAP, GFM1, GJA1, GJB1, GJC2, GLA, HARS, HARS2, HEPACAM, HMGCL, HSD17B4, HSPD1, HTRA1, IARS2, IBA57, IFIH1, KARS, KIF1C, L2HGDH, LAMA2, LAMB1, LARGE1, LARS, LARS2, LMNB1, LYRM7, MAG, MARS, MARS2, MCOLN1, MEF2C, MLC1, MPLKIP, MTFMT, NARS, NARS2, NDUFAF1, NDUFAF3, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX6-2, NT5C2, NUBPL, PAFAH1B1, PARS2, PEX1, PEX10, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX6, PGAP1, PLP1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMT2, PSAP, PYCR2, QARS, QDPR, RAB3GAP2, RARS, REEP2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SARS2, SCO1, SCO2, SCP2, SDHAF1, SDHB, SLC16A2, SLC17A5, SLC25A12, SLC25A4, SNORD118, SOX10, SPART, SPAST, SPG11, SPG21, SPTAN1, SUCLA2, SUMF1, SURF1, TACO1, TARS2, TREM2, TREX1, TUBB4A, TWNK, TYMP, TYROBP, USP8, VARS2, WASHC5, YARS, ZFR, ZFYVE26(~ 182 Gene)

Myopathien

Myotone Dystrophie Steinert (DM1)
DMPK (Repeat)
(~ 1 Gen)
Myotone Dystrophie PROMM (DM2)
CNBP (Repeat)
(~ 1 Gen)
Oculopharyngeale Muskeldystrophie (OPMD)
PABPN1 (Repeat)
(~ 1 Gen)
Adenosin-Monophosphat-Deaminase-Mangel
AMPD1
(~ 1 Gen)
Myotonia Congenita
ATP2A1, CAV3, CLCN1, HINT1, SCN4A
(~ 5 Gene)
Kongenitale Myasthenien
AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, LRP4, MUSK, MUSK, MYO9A, PREPL, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2(~ 25 Gene)
Gliedergürteldystrophien
ANO5, BVES, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DNAJB6, DYSF, FKRP, FKTN, GMPPB, LAMA2, LIMS2, LMNA, MYOT, PLEC, POGLUT1, POMGNT1, POMGNT2, POMT1, POMT2, SEPN1, SGCA, SGCB, SGCD, SGCG, TCAP, TOR1AIP1, TRAPPC11, TRIM32, TTN (~ 34 Gene)
Kongenitale Muskeldystrophien
ABHD5, ACAD9, ACADM, ACADVL, ACTA1, ACVR1, AGL, ALDOA, ANO5, BAG3, BIN1, C10orf2, CAV3, CFL2, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CPT2, CRYAB, DES, DNM2, DYSF, ENO3, ETFA, ETFB, ETFDH, FHL1, FKBP14, FKRP, FLNC, GAA, GBE1, GNE, GYG1, GYS1, HADHA, HADHB, ISCU, KBTBD13, KLHL9, LAMP2, LDB3, LDHA, LPIN1, MAMLD1, MATR3, MEGF10, MSTN, MTM1, MTMR14, MYF6, MYH14, MYH2, MYH7, MYOT, NEB, OPA1, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PLEC, PNPLA2, POLG, POLG2, PRKAG2, PUS1, PYGM, RRM2B, RYR1, SEPN1, SIL1, SLC22A5, SLC25A20, STIM1, SUCLA2, TAZ, TK2, TNNT1, TPM2, TPM3, TRIM32, TTN, VCP, VMA21, YARS2(~ 91 Gene)
Dystroglykanopathien
B3GALNT2, B4GAT1, DAG1, FKRP, FKTN, GMPPB, ISPD, LARGE, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RXYLT1(~ 14 Gene)
Rhabdomyolyse
CPT2
(~ 1 Gen)

Periphere Neuropathien und spinale Muskelathropie (SMA)

Charcot-Marie-Tooth-Syndrom Typ 1a (CMT1A) und Hereditäre Neuropathie mit Neigung zu Drucklähmungen (HNPP)
PMP22 (Duplikation und Deletion)
(~ 1 Gen)
Neuropathien gesamtes Panel
AARS, ARHGEF10, ATP7A, BSCL2, CTDP1, DCTN1, DNM2, DYNC1H1, EGR2, FAM134B, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, KIF1B, LITAF, LMNA, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PLEKHG5, PMP22, POLG, PRPS1, PRX, RAB7A, REEP1, SBF2, SEPT9, SETX, SH3TC2, SLC12A6, SOD1, SOX10, SPTLC1, TRPV4, WNK1, YARS(~ 51 Gene)
Spinale Muskelatrophie Typ 1-4 (SMA)
SMN1, SMN2 (Deletion)
(~ 2 Gene)
Spinobulbäre Muskelatrophie Kennedy (XSBMA)
AR (Repeat)
(~ 1 Gen)
SMA gesamtes Panel
AARS, ASAH1, ASCC1, ATM, ATP7A, BSCL2, DCTN1, DNAJB2, DYNC1H1, EXOSC3, FBLN1, GARS, HARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, PLEKHG5, REEP1, SCO2, SETX, SIGMAR1, SLC5A7, SMN1, TRPV4, UBA1, VAPB, VRK1(~ 29 Gene)

Spastische Paraparese

SPG gesamtes Panel
ABCB7, ABCD1, AFG3L2, ALS2, ANG, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ASAH1, ATL1, ATP7A, AUH, BSCL2, CCT5, CHMP2B, CLCN2, CYP27A1, CYP7B1, DARS2, DCTN1, ELOVL4, ENTPD1, ERLIN2, FA2H, FIG4, FUS, GAD1, GALC, GAN, GARS, GBA, GCH1, GFAP, GJC2, GLB1, HEXA, HSPB1, HSPB3, HSPB8, HSPD1, IGHMBP2, KANK1, KIAA0196, KIF1A, KIF5A, L1CAM, LYST, MARS2, MTHFR, MTPAP, NDUFV1, NEFH, NIPA1, OPA1, OPA3, OPTN, PANK2, PFN1, PLA2G6, PLEKHG5, PLP1, PNPLA6, PQBP1, PRPH, PSEN1, RAB3GAP1, RAB3GAP2, REEP1, RTN2, SACS, SCO2, SCP2, SETX, SIGMAR1, SIL1, SLC16A2, SLC25A15, SLC33A1, SOD1, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, TARDBP, TH, TRPV4, UBA1, UBQLN2, VAPB, VCP, VEGFA, VRK1, ZFYVE26, ZFYVE27(~ 98 Gene)
Auftragsformular Sensorische Erkrankungen

Augenerkrankungen

Katarakt, hereditäre, isolierte und syndromale
ABHD12, ADAMTS10, ADAMTSL4, AGK, AGPS, AKR1E2, ALDH18A1, B3GALNT2, B3GLCT, B4GAT1, BCOR, BEST1, BFSP1, BFSP2, BUB1B, CAPN15, CBS, CDKN2A, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGFP, CRYGS, CTDP1, CYP27A1, CYP51A1, DAG1, DHCR7, EED, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, ESCO2, EYA1, FAM126A, FBN1, FKRP, FKTN, FLNB, FOXC1, FOXD3, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, GJC3, GJE1, GMPPB, GNPAT, HCCS, HMX1, HSF4, HTRA2, INPP5K, ISPD, JAM3, LARGE1, LCAT, LCT, LIM2, LMX1B, LRP5, LTBP2, LTBP3, MAF, MAFIP, MAN2A1, MAN2B1, MFSD6L, MIP, MIPEP, MIR184, MMP1, MSMO1, MYH9, NDP, NECTIN3, NF2, NHS, OCRL, OPA3, OTX2, P3H2, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX5L, PEX6, PEX7, PITX2, PITX3, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRX, PTCH1, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RNLS, SC5D, SEC23A, SIL1, SIPA1L3, SIX3, SIX5, SIX6, SLC16A12, SLC2A1, SLC33A1, SOX2, SRD5A3, SREBF2, TDRD7, TFAP2A, TMEM114, TMEM5, TMEM70, VIM, VSX2, WRN(~ 157 Gene)
Retinopathien, isolierte und syndromale
ABCA4, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, AGBL5, AHI1, AIPL1, ALMS1, ARHGEF18, ARL13B, ARL2BP, ARL6, ATF6, ATOH7, ATXN7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C21orf2, C2orf71, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CCT2, CDH23, CDH3, CDHR1, CEP104, CEP164, CEP290, CEP41, CEP78, CERKL, CHM, CIB2, CLN3, CLRN1, CLUAP1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL4A1, CRB1, CRX, CSPP1, CTNNB1, CWC27, CYP4V2, DHDDS, DHX38, DRAM2, EFEMP1, ELOVL4, ERCC6, ERCC8, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GNAT1, GNAT2, GNPTG, GPR143, GPR179, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HARS, HGSNAT, HK1, HMX1, IDH3B, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, KCNJ13, KCNV2, KIAA1549, KIF11, KIF7, KIZ, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP2, LRP5, LZTFL1, MAK, MERTK, MFRP, MFSD8, MKKS, MKS1, MYO7A, NDP, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, NYX, OAT, OFD1, OPN1LW, OPN1MW, OPN1SW, OR2W3, OTX2, PANK2, PAX2, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX1, PEX2, PEX7, PHYH, PITPNM3, PLA2G5, POC1B, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SCAPER, SDCCAG8, SEMA4A, SLC24A1, SLC38A8, SLC7A14, SNRNP200, SPATA7, SRD5A3, TIMP3, TMEM138, TMEM216, TMEM237, TOPORS, TRIM32, TRPM1, TSPAN12, TTC8, TTLL5, TTPA, TUB, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WHRN, ZNF408, ZNF423, ZNF513(~ 224 Gene)
Mikrophtalmie/Anophtalmie/Kolobom
ABCB6, ACTB, ACTG1, ALDH1A3, ATOH7, BCOR, BMP4, BMP7, C12orf57, CHD7, COL4A1, CRYBA4, CYP1B1, ERCC1, ERCC2, ERCC5, ERCC6, FOXC1, FOXE3, FOXL2, FRAS1, FREM1, FREM2, FZD4, GDF3, GDF6, GJA1, GRIP1, HCCS, HESX1, HMX1, MAB21L2, MFRP, NDP, NDUFB11, OCRL, OTX2, PAX2, PAX6, PITX2, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, SALL2, SHH, SIX3, SIX6, SMO, SMOC1, SOX2, STRA6, TBC1D20, TENM3, TFAP2A, TGIF1, TMEM98, VAX1, VPS13B, VSX2, ZIC2(~ 64 Gene)
Axenfeldt-Rieger-Syndrom
ASPH, B3GLCT, COL4A1, COL4A2, CYP1B1, EYA1, FOXC1, FOXE3, HMX1, LTBP2, MIR184, MYOC, PAX6, PITX2, PXDN, SLC38A8(~ 16 Gene)
Linsenluxation
ADAMTS10, ADAMTS17, ADAMTSL4, ASPH, CBS, COL11A1, COL18A1, COL2A1, FBN1, LTBP2, P3H2, VCAN, VSX2(~ 13 Gene)
Juveniles Glaukom
ADAMTS10, ADAMTS17, CYP1B1, FOXC1, FOXD3, FOXE3, LTBP2, MYOC, PAX6, PITX2, TEK(~ 11 Gene)
Optikusatrophie, hereditäre
ACO2, DNM1L, MFN2, MTPAP, OPA1, OPA3, RTN4IP1, TMEM126A, WFS1, YME1L1(~ 11 Gene)
Hornhautdystrophie
ADAMTS18, AGBL1, ALDH18A1, B3GLCT, CHRDL1, CHST6, COL17A1, COL8A2, CYP4V2, DCN, GJA1, GSN, HMX1, KERA, KRT12, KRT3, LTBP2, MAF, MIR184, OVOL2, PAX6, PIK3R1, PIKFYVE, PITX2, PRDM5, RAB18, RAB3GAP1, RAB3GAP2, SLC16A12, SLC4A11, TACSTD2, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469(~ 36 Gene)
Albinismus, okulär / okulokutaner, und DD
AP3B1, AP3D1, BLOC1S3, BLOC1S6, DTNBP1, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1(~ 20 Gene)

Schwerhörigkeit

Schwerhörigkeit, isolierte
ACTG1, ADCY1, BDP1, BSND, CABP2, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CLDN14, CLIC5, COCH, COL11A2, DCDC2, DIAPH1, DMXL2, DSPP, ELMOD3, EPS8, EPS8L2, ESPN, ESRRB, EYA4, FAM189A2, GIPC3, GJB2, GJB3, GJB6, GPSM2, GRHL2, GRXCR1, GRXCR2, GSDME, HGF, HOMER2, ILDR1, KARS, KCNQ4, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MCM2, MET, MIR96, MSRB3, MYH14, MYH9, MYO15A, MYO1A, MYO3A, MYO6, MYO7A, NARS2 6, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PCDH15, PJVK, PNPT1, POU4F3, PTPRQ, RDX, RIPOR2, ROR1, S1PR2, SERPINB6, SIX1, SLC17A8, SLC22A4, SLC26A4, SLC26A5, STRC, SYNE4, TBC1D24, TECTA, TJP2, TMC1, TMEM132E, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR, USH1C, WBP2, WFS1, WHRN(~ 93 Gene)
Schwerhörigkeit, syndromale
ADGRV1, BTD, CDH23, CIB2, CLRN1, COL11A1, COL11A2, COL2A1, COL4A3 7, COL4A4 7, COL4A5, COL9A1, COL9A2, COL9A3, EDN3, EDNRB, EYA1, HARS, KCNE1, KCNQ1, MITF, MYO7A, NF2, PAX3, PCDH15, PEX7, PHYH, SIX1, SIX5, SLC26A4, SOX10, TIMM8A, USH1C, USH1G, USH2A, WHRN(~ 36 Gene)
Stickler-Syndrom und DD
COL11A, COL11A2, COL2A1, COL9A1, COL9A2, PRDM5, ZNF469
(~ 7 Gene)
Auftragsformular Herz-/Bindegewebserkrankungen

Kardiomyopathie

Morbus Fabry
GLA
(~ 1 Gen)
Amyloidose
TTR
(~ 1 Gen)
Kardiomyopathien, hypertrophe
ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ANKRD1, ATP5E, BRAF, CACNA1C, CALR3, CASQ2, CAV3, COA5, COX15, CRYAB, CSRP3, DES, FHL1, FLNC, FOXRED1, FXN, GAA, GLA, GLB1, GUSB, HRAS, JPH2, KCNQ1, KLF10, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MRPL3, MT-TI, MT-TL1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ2, MYPN, NEXN, NRAS, PDLIM3, PLN, PRKAG2, PTPN11, RAF1, SCO2, SHOC2, SLC25A20, SLC25A3, SLC25A4, SOS1, TCAP, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TSFM, TTN, TTR, VCL(~ 73 Gene)
Kardiomyopathien, dilatative
ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CAV3, CSRP3, DES, DMD, DSC2, DSG2, DSP, EPG5, EYA4, FKTN, HAMP, HFE, HFE2, IDH2, JUP, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, NEXN, PLN, PPP1R13L, RAB3GAP2, RAF1, RBM20, RYR2, SCN5A, SGCD, SLC22A5, SLC40A1, TAZ, TCAP, TFR2, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL(~ 48 Gene)
Kardiomyopathien gesamtes Panel (hypertrophisch und dilativ)
AARS2, ABCC9, ACAD9, ACADM, ACADS, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, ANKRD1, ATP5E, BAG3, BRAF, CACNA1C, CALR3, CASQ2, CAV3, CHKB, COA5, COX15, CPT1A, CPT2, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, EMD, EPG5, ETFA, ETFB, ETFDH, EYA4, FHL1, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GBE1, GFM1, GLA, GLB1, GNE, GUSB, HAMP, HFE, HFE2, HRAS, IDH2, JPH2, JUP, KCNQ1, KLF10, LAMP2, LARGE1, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MRPL3, MTO1, MT-TI, MT-TL1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOT, MYOZ2, MYPN, NEXN, NRAS, PDLIM3, PLEC, PLN, PNPLA2, POMGNT1, POMT1, POMT2, PPP1R13L, PRKAG2, PTPN11, RAB3GAP2, RAF1, RBM20, RYR2, SCN5A, SCO2, SDHA, SEPN1, SGCA, SGCB, SGCD, SGCG, SHOC2, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC40A1, SOS1, SYNE1, SYNE2, TAZ, TCAP, TFR2, TGFB3, TMEM43, TMEM70, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TSFM, TTN, TTR, VCL, VCP(~ 130 Gene)
Non-Compaction-Kardiomyopathien
AARS2, ABCC9, ACAD9, ACTA1, ACTC1, ACTN2, AGK, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALR3, CASQ2, CAV3, COA5, COX10, COX15, CSRP3, CTNNA3, DES, DNAJC19, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FBN1, FHL1, FLNC, GAA, GJA5, GLA, GPD1L, HCN4, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMP2, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SLC25A4, SNTA1, SOS1, TAZ, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL(~ 104 Gene)

Arrhythmogene Erkrankungen

Brugada-Syndrom
ABCC9, ANK2, CACNA1C, CACNA2D1, CACNB2, CAV3, DLG1, FGF12, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A, SEMA3A, SLMAP, TRPM4(~ 26 Gene)
Long-QT-Syndrom (LQT)
AKAP9, ALG10, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, NOS1AP, RYR2, SCN4B, SCN5A, SNTA1(~ 20 Gene)
Wolff-Parkinson-White-Syndrom
PRKAG2
(~ 1 Gen)
Arrhythmogene rechtsventrikuläre Dysplasie (ARVD)
CAVIN4, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, JUP, LDB3, LMNA, PKP2, PLN, RBM20, RYR2, SCN5A, TGFB3, TMEM43, TTN(~ 18 Gene)
Katecholaminerge polymorphe ventrikuläre Tachykardie (CPVT)
ANK2, CALM1, CALM2, CALM3, CASQ2, KCNE1, KCNJ2, RYR2, TECRL, TRDN
(~ 10 Gene)

Kardiovaskuläre Risikofaktoren

Familiäre Hypercholesterolämie
ABCG5, ABCG8, APOB, APOE, LDLR, LDLRAP1, LIPA, PCSK9
(~ 8 Gene)

Bindegewebserkrankungen / Aorten- und Gefässerkrankungen

Marfan-Syndrom, Loeys-Dietz-Syndrom, Ehlers-Danlos-Syndrom und DD (Aorten-Krankheiten)
ABCC6, ABL1, ACTA2, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1A, ATP7A, B3GALT6, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLCN, FLNA, GGCX, GORAB, LOX, LTBP4, MED12, MYH11, MYLK, NOTCH1, PLOD1, PLOD3, PRDM5, PRKG1, PYCR1, RIN2, ROBO3, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469(~ 67 Gene)
Auftragsformular Entwicklungsstörungen/Syndrome

Chromosomenstörung

Karyotypisierung, konventionnelle – Heparin-Blut
Karyotypisierung, konventionnelle – Heparin-Blut
Karyotypisierung, molekulare (Array-CGH) – EDTA-Blut
Karyotypisierung, molekulare (Array-CGH) – EDTA-Blut

Isolierte und syndromale geistige Behinderung / Autismus-Spektrum-Störung

Fragiles-X-Syndrom
FMR1 (Repeat)
(~ 1 Gen)
Exomweite Untersuchung
Exomweite Untersuchung(~ Ca. 20000 Gene)

Spezifische Entwicklungsstörungen

Epileptische Enzephalopathie
AARS, AARS2, ABAT, ABCB7, ABCD1, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACO2, ACOX1, ACTG2, ACTL6B, ADAR, ADAT3, ADCK3, ADCK4, ADGRG1, ADGRV1, ADPRHL2, ADSL, AFG3L2, AGK, AGL, AGRN, AIFM1, AIMP1, AIMP2, AKT1, AKT3, ALAS2, ALDH3A2, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMACR, AMPD2, AMT, ANO10, AP3B2, APOPT1, APTX, ARFGEF2, ARG1, ARHGEF15, ARHGEF9, ARID1B, ARSA, ARV1, ARX, ASAH1, ASPA, ATN1, ATP13A2, ATP1A1, ATP1A2, ATP1A3, ATP5A1, ATP5E, ATP6AP2, ATP6V0A2, ATP6V1A, ATP7A, ATP7B, ATPAF2, ATRX, AUH, BCKDHA, BCKDHB, BCORL1, BCS1L, BOLA3, BRAF, BRAT1, BSCL2, BTD, C10orf2, C12orf57, C12orf65, C19orf12, CACNA1A, CACNA1D, CACNA1E, CACNA1G, CACNA1H, CACNA2D2, CACNB4, CAD, CAMK2G, CARS2, CASK, CASR, CBL, CC2D2A, CCDC115, CCDC88A, CCDC88C, CCND2, CDKL5, CHAT, CHCHD10, CHD2, CHD8, CHKB, CHRNA1, CHRNA2, CHRNA4, CHRNB1, CHRNB2, CHRND, CHRNE, CIC, CISD2, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNPY3, CNTN2, CNTNAP2, COA5, COG4, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COLQ, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX4I2, COX6B1, COX8A, CP, CPA6, CPT1A, CPT2, CREBBP, CRH, CSF1R, CSNK1G1, CSNK2B, CSTB, CTNNA2, CTSD, CUX2, CYFIP2, CYP27A1, D2HGDH, DARS2, DBT, DCAF17, DCX, DDX3X, DEAF1, DENND5A, DEPDC5, DGUOK, DHCR24, DHCR7, DHDDS, DHX30, DIAPH1, DLAT, DLD, DMBX1, DNA2, DNAJC19, DNAJC3, DNAJC6, DNM1, DNM1L, DNM2, DOCK7, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPYD, DYNC1H1, DYRK1A, EARS2, ECHS1, EEF1A2, EFHC1, EFTUD2, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF3F, EML1, EMX2, EPG5, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, FA2H, FAM126A, FAR1, FARS2, FASTKD2, FBXL4, FBXO11, FDX2, FGF12, FGFR3, FH, FIG4, FKRP, FKTN, FLAD1, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FTL, FUCA1, FUT8, GABBR2, GABRA1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GALC, GAMT, GARS, GATAD2B, GATM, GBA, GBE1, GCDH, GCH1, GCSH, GDAP1, GFAP, GFER, GFM1, GFPT1, GJA1, GJC2, GLB1, GLDC, GLI3, GLRA1, GLRB, GLUD1, GLUL, GLYCTK, GM2A, GMPPB, GNAO1, GNAQ, GNB1, GNB5, GOSR2, GPAA1, GPHN, GRIA4, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GSS, GTPBP2, GTPBP3, H3F3A, H3F3B, HACE1, HADH, HARS2, HAX1, HCCS, HCFC1, HCN1, HCN2, HECW2, HEPACAM, HEXA, HEXB, HIBCH, HLCS, HMGCL, HNRNPDL, HNRNPH2, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B4, HSPD1, HTRA2, IARS2, IBA57, IDH2, IER3IP1, IFIH1, IKBKG, INO80, IQSEC2, IRF2BPL, ISCA2, ISCU, ISPD, ITPA, KARS, KAT5, KCNA1, KCNA2, KCNB1, KCNC1, KCND3, KCNH5, KCNJ10, KCNJ11, KCNK4, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD17, KCTD3, KCTD7, KIAA1109, KIF1A, KIF1BP, KIF21A, KIF2A, KIF5A, KIF5C, KPTN, KRAS, L2HGDH, LAMA2, LAMP2, LARGE1, LARS, LARS2, LGI1, LIAS, LIPT2, LMNB1, LMNB2, LNPK, LONP1, LRP4, LRPPRC, LYRM7, LYST, MACF1, MAF, MAGI2, MANBA, MAP2K1, MAP2K2, MAPK10, MARS2, MAST1, MATN4, MBD5, MBOAT7, MCEE, MCOLN1, MDH2, MECP2, MED12, MED17, MEF2C, MFF, MFN2, MFSD8, MGME1, MICU1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPV17, MRE11A, MRPL44, MRPS16, MRPS22, MRPS7, MTFMT, MTHFR, MTM1, MTO1, MTOR, MTPAP, MTR, MT-TL1, MUSK, MUT, MYBPC1, NACC1, NAGA, NARS2, NBAS, NBEA, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NECAP1, NEDD4L, NEU1, NEXMIF, NFU1, NGLY1, NHLRC1, NID1, NOL3, NPC1, NPC2, NPRL2, NPRL3, NRAS, NRXN1, NSD1, NSDHL, NTRK2, NUBPL, NUS1, OCLN, OPA1, OPA3, OPHN1, OTC, OTUD6B, OTX2, PABPN1, PACS1, PACS2, PAFAH1B1, PAH, PAK1, PANK2, PARS2, PC, PCCA, PCCB, PCDH12, PCDH19, PCDHB4, PCLO, PDGFB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHACTR1, PHGDH, PIGA, PIGC, PIGG, PIGH, PIGN, PIGO, PIGQ, PIGT, PIGW, PIK3CA, PIK3R2, PITRM1, PLA2G6, PLAA, PLCB1, PLP1, PLPBP, PMM2, PMPCA, PNKP, PNPLA2, PNPO, PNPT1, POLG, POLG2, POLR1C, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PPP3CA, PPT1, PPT2, PRDM8, PREPL, PRICKLE1, PRICKLE2, PRIMA1, PRMT7, PRODH, PRRT2, PSAP, PSAT1, PSMB8, PSPH, PTCD1, PTEN, PTF1A, PTPN23, PTRH2, PTS, PURA, PUS1, PYCR2, QARS, QDPR, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RALA, RANBP2, RAPSN, RARS, RARS2, RELN, RFT1, RHOBTB2, RMND1, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNU4ATAC, ROGDI, RORA, RORB, RPIA, RRM2B, RTN4IP1, RTTN, RUBCN, RUSC2, RYR1, RYR2, RYR3, SAMHD1, SARS2, SCARB2, SCN1A, SCN1B, SCN2A, SCN2B, SCN3A, SCN8A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC24D, SEPSECS, SERAC1, SETBP1, SETD1B, SETD5, SGCE, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC1A2, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC2A1, SLC33A1, SLC35A1, SLC35A2, SLC35A3, SLC45A1, SLC6A1, SLC6A19, SLC6A5, SLC6A8, SLC9A6, SMARCA2, SMARCC2, SMC1A, SMS, SNIP1, SNORD118, SOX10, SPATA5, SPG7, SPR, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STAG1, STAMBP, STAT2, STRADA, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYN1, SYNE1, SYNGAP1, SYNJ1, SZT2, TACO1, TALDO1, TANGO2, TARS2, TAZ, TBC1D20, TBC1D24, TBCD, TBCK, TBL1XR1, TCF4, TELO2, TFE3, TIMM50, TIMM8A, TK2, TMEM126A, TMEM70, TNK2, TPK1, TPP1, TRAF7, TRAK1, TRAPPC12, TRAPPC6B, TREX1, TRIM8, TRIP13, TRIT1, TRMT5, TRMU, TRNT1, TRPM6, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TUBA1A, TUBA3E, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUFM, TXN2, TXNRD1, TYMP, UBA5, UBE2A, UBE3A, UFC1, UFM1, UNC80, UQCRB, UQCRC2, UQCRQ, VARS, VARS2, VLDLR, VPS11, WASF1, WDR45, WDR45B, WDR62, WDR73, WFS1, WWOX, XPNPEP3, XRCC4, YARS2, YWHAG, ZBTB18, ZEB2(~ 793 Gene)
RASopathien (Noonan-Syndrom und DD, CFC-Syndrom und Costello-Syndrom)
A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1(~ 19 Gene)
Cohesinopathien (Cornelia de Lange-Syndrom und DD inkl. Kabuki-, Coffin-Siris, Nicolaides-Baraitser- und Wiedemann-Steiner-Syndrome)
ABCC9, AFF4, ANKRD11, ARID1A, ARID1B, CREBBP, EP300, ESCO2, HDAC8, KCNJ8, KDM6A, KMT2A, KMT2D, MRPS22, NAA10, NIPBL, PHF6, RAD21, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SRCAP, TAF6(~ 27 Gene)
Ziliopathien (inkl. Bardet-Biedl-Syndrom)
AHI1, ALMS1, ANKS3, ANKS6, ARID1B, ARL13B, ARL6, ARMC4, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf2, C2CD3, C5orf42, C8ORF37, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP104, CEP120, CEP164, CEP19, CEP290, CEP41, CEP83, CFAP298, CFAP43, CFAP53, CPLANE1, CRB2, CSPP1, DCDC2, DDX59, DHCR7, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, DYNC2LI1, EVC, EVC2, EXOC4, FAN1, GAS8, GLI2, GLI3, GLIS2, GPC3, GPR161, GPSM2, HNF1B, HOXD13, HYLS1, ICK, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT74, IFT80, IFT81, INPP5E, INTU, INVS, IQCB1, KIAA0556, KIAA0586, KIF24, KIF7, LMBR1, LRRC6, LZTFL1, MAPKBP1, MIPOL1, MKKS, MKS1, MMP21, NEK1, NEK8, NEK9, NME8, NPHP1, NPHP3, NPHP4, OFD1, ORC6, PCARE, PDE6D, PITX1, PKD1, PKD2, PKHD1, PMM2, POC1B, PRKCSH, PTCH1, PTEN, RAB23, RNU4ATAC, ROR2, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SALL1, SALL4, SBDS, SCLT1, SDCCAG8, SEC63, SLC41A1, SPAG1, SUFU, TBC1D32, TBX3, TCTEX1D2, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TTC21B, TTC8, TWIST1, TXNDC15, VPS13B, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF141, ZNF423, ZSWIM6(~ 171 Gene)
Grosswuchssyndrome
AKT3, ASXL2, BRWD3, CDKN1B, CDKN1C, CHD8, DICER1, DIS3L2, DNMT3A, EED, EZH2, GPC3, H19, HERC1, HIST1H1E, IGF2, KCNQ1OT1, MED12, MTOR, NFIB, NFIX, NPR2, NSD1, OFD1, PDGFRB, PIK3CA, PPP2R5D, PTCH1, PTEN, RNF125, RNF135, SETD2, STK11, ZBTB20(~ 34 Gene)
Angeborene Knochenerkrankungen (Skelettdysplasie)
ABCC9, ABL1, ACAN, ACP5, ACVR1, ACVR2B, ADAMTS10, ADAMTS17, ADAMTSL2, ADGRV1, ADI1, AFF3, AGA, AGPS, AHI1, AIPL1, AKT1, ALG12, ALG3, ALG9, ALPL, ALX1, ALX3, ALX4, AMER1, ANKH, ANKRD11, ANO5, ANTXR2, ARHGAP31, ARID1A, ARID1B, ARL13B, ARL6, ARSB, ARSE, ASXL1, ASXL2, ATP6V0A2, ATP7A, ATXN10, B3GALT6, B3GAT3, B4GALT7, B9D1, B9D2, BANF1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP1, BMP2, BMPER, BMPR1B, C21orf2, C2CD3, C2orf71, C5orf42, CA2, CANT1, CASR, CC2D2A, CCDC28B, CCDC39, CCDC40, CCDC8, CD96, CDC45, CDC6, CDH23, CDH3, CDKN1C, CDT1, CEP120, CEP164, CEP290, CEP41, CFTR, CHST14, CHST3, CHSY1, CKAP2L, CLCN5, CLCN7, CLRN1, COG1, COL10A1, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL5A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COMP, CRB1, CREB3L1, CREBBP, CRELD1, CRTAP, CRX, CSPP1, CTSA, CTSC, CTSK, CUL7, CYP26B1, CYP27B1, DACT1, DCC, DDR2, DHCR24, DHODH, DIS3L2, DLL3, DLL4, DLX3, DLX5, DLX6, DMP1, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3A, DOCK6, DOLPP1, DPM1, DPM2, DPM3, DSPP, DVL1, DVL3, DYM, DYNC2H1, DYNC2LI1, EBP, EED, EFNB1, EFTUD2, EIF2AK3, ENPP1, EOGT, EP300, ERF, ESCO2, ESR1, ETF1, EVC, EVC2, EXT1, EXT2, EXTL3, EZH2, FAM111A, FAM20C, FAM58A, FBLIM1, FBLN1, FBN1, FBN2, FBXW4, FERMT3, FGF10, FGF16, FGF23, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FIG4, FKBP10, FLNA, FLNB, FMN1, FN1, FOXC1, FOXH1, FUCA1, FZD2, GALNS, GALNT3, GDF1, GDF3, GDF5, GDF6, GHR, GJA1, GLB1, GLI3, GLIS2, GNAS, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GPC6, GPX4, GREM1, GSC, GUCY2D, GUSB, GZF1, HDAC4, HDAC5, HDAC8, HES7, HGSNAT, HNRNPK, HOXA11, HOXA13, HOXD11, HOXD13, HPGD, HSPG2, HYLS1, ICK, IDH1, IDH2, IDS, IDUA, IFIH1, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, IFT88, IGF1R, IHH, IKBKG, IL11RA, IL1RN, IMPAD1, IMPDH1, INPPL1, INVS, IQCB1, KAT6A, KAT6B, KCNJ13, KIF22, KIF7, KMT2D, LBR, LCA5, LEFTY2, LEMD3, LFNG, LIFR, LMBR1, LMNA, LMX1B, LONP1, LOXL3, LPIN2, LRAT, LRP4, LRP5, LRP6, LTBP2, LTBP3, MAFB, MAN2B1, MAN2C1, MANBA, MAP3K7, MASP1, MATN3, MCM5, MEGF8, MEOX1, MESP2, MGP, MIR17HG, MKKS, MKS1, MMP13, MMP14, MMP2, MMP9, MNX1, MPDU1, MSX2, MTAP, MYCN, MYO7A, NAGLU, NANS, NBAS, NEK1, NEK8, NEU1, NF1, NFIX, NIN, NIPBL, NKX2-5, NKX3-2, NLRP3, NME8, NODAL, NOG, NOTCH1, NOTCH2, NPHP1, NPHP3, NPHP4, NPPC, NPR2, NSD1, NSDHL, OAT, OBSL1, OFD1, ORC1, ORC4, ORC6, OSTM1, P3H1, P4HB, PAM16, PAPSS2, PAX3, PCDH15, PCNT, PCYT1A, PDE3A, PDE4D, PEX5, PEX7, PGM3, PHEX, PHF6, PHGDH, PIGT, PIGV, PIK3CA, PIK3R1, PIN1, PIR, PITX1, PKD2, PKHD1, PLEKHM1, PLK4, PLOD1, PLOD2, PLS3, POC1A, POLR1A, POLR1C, POLR1D, POP1, POR, PPIB, PRKAR1A, PRMT7, PSAT1, PSPH, PTDSS1, PTH1R, PTHLH, PTPN11, PTPRQ, PUF60, PYCR1, RAB23, RAB33B, RAB3GAP2, RAD21, RASGRP2, RBM8A, RBPJ, RD3, RDH12, RECQL4, RFT1, RIPPLY2, RMRP, RNU4ATAC, ROR2, RPE65, RPGR, RPGRIP1, RPGRIP1L, RSPH4A, RSPH9, RUNX2, SALL1, SALL4, SBDS, SCARF2, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SEC24D, SEM1, SERPINF1, SERPINH1, SETD2, SF3B4, SFRP4, SGSH, SH3BP2, SH3PXD2B, SHH, SHOX, SKI, SLC10A7, SLC17A5, SLC26A2, SLC29A3, SLC34A3, SLC35D1, SLC39A13, SLCO2A1, SLCO5A1, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SNRPB, SNX10, SOST, SOX11, SOX9, SP7, SPARC, SPATA7, SPECC1L, SULF1, SUMF1, TALDO1, TAPT1, TBCE, TBX15, TBX3, TBX4, TBX5, TBX6, TBXAS1, TCF12, TCIRG1, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDP2, TERT, TGDS, TGFB1, TGFB2, TGFBR1, TGFBR2, THPO, TMCO1, TMEM138, TMEM165, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TNFRSF11A, TNFRSF11B, TNFSF11, TNXB, TOPORS, TP63, TRAPPC2, TREM2, TRIM32, TRIP11, TRMT10A, TRPS1, TRPV4, TRPV6, TSC1, TSC2, TTC21B, TTC8, TULP1, TWIST1, TWIST2, TYROBP, UFSP2, UMOD, USH1C, USH1G, USH2A, USP9X, VAC14, VDR, VHL, WDPCP, WDR19, WDR34, WDR35, WDR60, WHRN, WISP3, WNT1, WNT10B, WNT3, WNT5A, WNT7A, WRN, XPNPEP3, XRCC4, XYLT1, XYLT2, YY1, ZBTB16, ZIC1, ZIC3, ZMPSTE24, ZNF423(~ 546 Gene)
Mikrozephalie, isolierte und syndromale
AARS, ADGRG1, AKT3, ANKLE2, APOC3, ARCN1, ARFGEF2, ASNS, ASPM, ATP6V0A2, ATR, ATRIP, ATRX, BLM, BRCA2, BRIP1, BUB1B, CASK, CCBE1, CCP110, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPF, CENPJ, CEP135, CEP152, CEP57, CEP63, CHEK1, CIT, CKAP2L, CNTNAP2, COASY, CREBBP, CRIPT, CTNNB1, CUL4B, DCHS1, DCX, DDX11, DHCR7, DIAPH1, DKC1, DNA2, DONSON, DPP6, DYNC1H1, DYRK1A, EFTUD2, EML1, EOMES, ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, ERCC8, ERMARD, FAM20C, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FAT4, FIG4, FLNA, FOXG1, FRMD4A, GLI3, GMNN, HDAC8, IARS, IER3IP1, IGF1, IGF1R, INIP, KATNB1, KIF11, KIF1BP, KIF2A, KIF5C, KNL1, LAMB1, LAMC3, LARP7, LIG4, MAP4, MCPH1, MFSD2A, MIR17HG, MKL2, MRE11, MSMO1, MYCN, NBN, NDE1, NHEJ1, NIN, NIPBL, NSDHL, NUF2, OCLN, ORC1, ORC4, ORC6, PAFAH1B1, PALB2, PCNT, PDHA1, PHC1, PHGDH, PI4KA, PLK4, PLXNB3, PNKP, POC1A, PPP1R15B, PQBP1, PRUNE1, PSAT1, PSPH, QARS, RAB18, RAB3GAP1, RAB3GAP2, RAD21, RAD50, RAD51C, RBBP8, RELN, RMI1, RNU4ATAC, RPL10, RTEL1, RTTN, SASS6, SLC25A19, SLC2A1, SLC9A6, SLC9A7, SLX4, SMC1A, SMC3, SNAP29, SPATA5, STAMBP, STIL, STRADA, TAF13, TBC1D20, TERT, TINF2, TOP3A, TRAIP, TRAPPC9, TRMT10A, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4, TUBGCP6, VLDLR, VPS13B, WDR4, WDR62, WDR73, WDR81, XRCC4, ZEB2, ZNF335(~ 182 Gene)
Lippen-Kiefer-Gaumensegel-Spalte (LKGS-Spalte), isolierte und syndromale
ABCC9, ACBD5, ACTB, ACTG1, ALG9, ALX3, AMER1, ANKRD11, ARCN1, ARHGAP29, ARHGAP31, ARID1A, ARID1B, ASXL1, ATP6V1B2, ATR, ATRX, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BCOR, BMP2, BMP4, BRPF1, BUB1B, C2CD3, C5orf42, CANT1, CASK, CC2D2A, CDC45, CDH1, CDKN1C, CHD1, CHD7, CHRNG, CHST14, CHSY1, CKAP2L, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, CREBBP, CTCF, CTNND1, DDX3X, DDX59, DHCR7, DHODH, DIS3L2, DLG1, DLL4, DLX4, DNMT3B, DOCK6, DVL1, DVL3, DYNC2H1, DYNC2LI1, EBP, EDN1, EDNRA, EFNB1, EFTUD2, EHMT1, EIF2S3, EIF4A3, EOGT, EP300, EPG5, ESCO2, EYA1, FAF1, FAM111A, FAM20C, FANCL, FGD1, FGFR1, FGFR2, FLNA, FLNB, FOXC2, FOXE1, FOXP2, FRAS1, FREM2, FTO, GATA3, GATA6, GDF1, GJA1, GLI3, GMNN, GNAI3, GNB1, GPC3, GRHL3, GRIP1, GYPE, HDAC4, HDAC8, HOXA2, HYLS1, ICK, IFT140, IFT172, IFT52, IFT80, IMPAD1, INTS1, IRF6, KANSL1, KAT6A, KAT6B, KCNH1, KCNJ2, KCNJ8, KDM1A, KDM5A, KDM5B, KDM5C, KDM6A, KIAA0586, KIF1BP, KIF22, KIF7, KMT2A, KMT2D, LMNA, LMX1B, MAP3K7, MAPRE2, MASP1, MBTPS2, MED12, MED13L, MED25, MEIS2, MEOX1, METTL23, MID1, MKS1, MSX1, MYMK, NBN, NECTIN1, NEDD4L, NEK1, NIPBL, NKX2-5, NKX2-6, NOTCH1, NSDHL, OFD1, PAX3, PGAP2, PGM1, PHF21A, PHF6, PHF8, PHGDH, PIEZO2, PIGA, PIGL, PIGN, PIGV, PIK3R2, PLCB4, POLR1A, POLR1C, POLR1D, POMT1, POMT2, PORCN, PQBP1, PSAT1, PTCH1, PTDSS1, RAD21, RAI1, RARB, RBM10, RBM8A, RBPJ, RIPK4, ROR2, RPL11, RPL5, RPS17, RPS19, RPS26, RPS28, RSPO2, RYR1, SALL4, SATB2, SCARF2, SEC23A, SELENOI, SETD1A, SETD5, SF3B4, SHH, SIX1, SIX3, SIX5, SKI, SLC26A2, SMAD2, SMAD3, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMG9, SMOC1, SMS, SNRPB, SON, SOX2, SOX9, SPECC1L, SRCAP, STAMBP, STIL, STRA6, STXBP1, SUMO1, TBX1, TBX15, TBX22, TCOF1, TCTN3, TELO2, TFAP2A, TFAP2B, TGDS, TGFB2, TGFB3, TGFBR1, TGFBR2, TMCO1, TP63, TRAPPC9, TRIM37, TSR2, TTC21B, TUBB, TWIST2, TXNL4A, UBB, UQCC2, USP9X, VAX1, WASHC5, WDR19, WDR34, WDR35, WDR60, WNT3, WNT5A, XYLT1, YAP1, ZBTB24, ZEB2, ZIC2, ZIC3, ZMPSTE24, ZSWIM6(~ 278 Gene)

V.a. spezifisches Syndrom

Panel auf Anfrage
Panel auf Anfrage

Uniparentale Disomien und Methylierung-Defekte

UPD 7 (Russel-Silver-Syndrom)
UPD 7 (Russel-Silver-Syndrom)
UPD 11 (Beckwith-Wiedemann- und Russel-Silver-Syndrome)
UPD 11 (Beckwith-Wiedemann- und Russel-Silver-Syndrome)
UPD 14 (Temple- und Kagami-Syndrome)
UPD 14 (Temple- und Kagami-Syndrome)
UPD 15 (Prader-Willi- und Angelman-Syndrome)
UPD 15 (Prader-Willi- und Angelman-Syndrome)
UPD 16 und 22
UPD 16 und 22
Auftragsformular Stoffwechselerkrankungen

Akute u/o Subakute Intoxikation

Hyperammoniämie
ALDH18A1, ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC3A2, SLC7A7(~ 14 Gene)
Ahornsirupkrankheit
BCKDHA, BCKDHB, DBT
(~ 3 Gene)
Klassische Organazidurien (MMA, PA, IVA) und DD
ACADSB, ACSF3, ALDH6A1, AUH, CLPB, DLD, DNAJC19, HSD17B10, HTRA2, IVD, MCCC1, MCCC2, MLYCD, MUT, OPA3, PCCA, PCCB, SERAC1, TAZ, TIMM50, TMEM70(~ 21 Gene)
Cobalamin(Cbl)-Defekte (Methylmalonazidämie mit Homocystinurie)
ABCD4, ACSF3, ALDH6A1, AMN, CD320, CUBN, GIF, HCFC1, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MUT, SUCLA2, SUCLG1, TCN2(~ 19 Gene)
Glutarazidurie Typ I und DD (D-2- und L-2-Hydroxyglutarazidurien)
D2HGDH, GCDH, L2HGDH, SLC25A1, SUGCT
(~ 5 Gene)
Multipler Acylc-CoA-Dehydrogenase-Mangel (Glutarazidurie Typ II)
ETFA, ETFB, ETFDH
(~ 3 Gene)
Defekte des Biotinstoffwechsels (Biotinidase- und Holokarboxylasesynthestase-Mangel)
BTD, HLCS
(~ 2 Gene)
Organoazidopathien gesamtes Panel
ABCD4, ACADSB, ACSF3, ALDH6A1, AMN, AUH, BCKDHA, BCKDHB, BTD, CD320, CLPB, CUBN, D2HGDH, DBT, DLD, DNAJC19, ETFA, ETFB, ETFDH, GCDH, GIF, HCFC1, HLCS, HSD17B10, HTRA2, IVD, L2HGDH, LMBRD1, MCCC1, MCCC2, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MUT, OPA3, PCCA, PCCB, SERAC1, SLC25A1, SUCLA2, SUCLG1, SUGT, TAZ, TCN2, TIMM50, TMEM70(~ 49 Gene)

Aminoazidopathien

Hyperphänylalaninämie (PKU und DD)
DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR
(~ 6 Gene)
Tyrosin-Stoffwechsel-assoziierte Erkrankungen (Tyrosinämie Typ I und DD)
FAH, HGD, HPD, TAT
(~ 4 Gene)
Methionin-Stoffwechsel-assoziierte Erkrankungen (klassische Homocystinurie und DD)
ADK, AHCY, CBS, CTH, GNMT, MAT1A, SUOX
(~ 7 Gene)
Prolin-Stoffwechsel-assoziierte Erkrankungen (Hyperprolinämie)
PRODH, P5CS
(~ 2 Gene)
Serin-Stoffwechsel-assoziierte Erkrankungen
PHGDH, PSPH
(~ 2 Gene)
Glycin Enzephalopathie und PNPO-Defizienz
AMT, GLDC, GCSH, PNPO
(~ 4 Gene)

Kongenitale Glykosylierungs-Defekte (CDG-Syndrome)

Kongenitale Glykosylierungs-Defekte (CDG-Syndrome)
ALG1, ALG10, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ATP6AP1, ATP6AP2, ATP6V0A2, ATP6V1A, ATP6V1E1, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALT1, B4GALT7, CAD, CCDC115, CHST14, CHST3, CHST6, CHSY1, COG1, COG2, COG3, COG4, COG5, COG6, COG7, COG8, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, EXT1, EXT2, FKRP, FKTN, FUT8, GALNT3, GFPT1, GMPPA, GMPPB, GNE, ISPD, LARGE1, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NANS, NGLY1, NUS1, PGAP1, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PMM2, POMGNT1, POMGNT2, POMT1, POMT2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC39A8, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM199, TMEM5, TRAPPC11, TUSC3, VPS13B, XYLT1, XYLT2(~ 106 Gene)

Störung der Energieversorgung (Hypoglykämie und Hyperlaktazidämie)

Glykogenosen / Glykogenspeicher-Krankheiten
AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYG2, GYS1, GYS2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PRKAG3, PYGL, PYGM, RBCK1, SLC2A2, SLC37A4(~ 26 Gene)
Angeborener Hyperinsulinismus
ABCC8, GCK, GLUD1, HADH, HNF1A, HNF4A, INSR, KCNJ11, SLC16A1, TRMT10A
(~ 10 Gene)
Fruktose-Stoffwechsel-assoziierte Erkrankungen (hereditäre Fruktoseintoleranz und DD)
ALDOB, FBP1, KHK
(~ 3 Gene)
Ketogene-Stoffwechsel-assoziierte Erkrankungen
ACAT1, BDH1, HGMCL, HGMCS2, OXCT1, SLC16A1
(~ 6 Gene)
Defekte der Fettsäureoxidation (β-Oxifation)
ABHD5, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT2, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FLAD1, HADH, HADHA, HADHB, LPIN1, PNPLA2, RFK, SLC22A5, SLC25A20, SLC25A32, SLC52A1, SLC52A2, SLC52A3(~ 27 Gene)
Hypogkykämie gesamtes Panel
ABCC8, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, AGL, ALDOB, CPT1A, CPT2, ECHS1, ETFA, ETFB, ETFDH, ETHE1, FBP1, FLAD1, G6PC, GCK, GLUD1, GYS2, HADH, HADH, HADHA, HADHB, HGMCL, HGMCS2, HNF1A, HNF4A, INSR, KCNJ11, LPIN1, PHKA1, PHKA2, PHKB, PHKG2, PNPLA2, PYGL, RFK, SLC16A1, SLC16A1, SLC22A5, SLC25A20, SLC25A32, SLC37A4, SLC52A1, SLC52A2, SLC52A3, TRMT10A(~ 50 Gene)
Galaktosämie und DD
GALE, GALK, GALT
(~ 3 Gene)
Pyruvat-Dehydrogenase und Dihydrolipoamid-Dehydrogenase Mangel
DLAT, DLD, LIAS, PDHA1, PDHB, PDHX, PDP1
(~ 7 Gene)
Pyruvat-Carboxylase Mangel
PC
(~ 1 Gen)
Mitochondriopathien gesamtes Panel
AARS2, ABAT, ABCB7, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACO2, ACTG2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AGRN, AIFM1, ALAS2, ALG14, ALG2, ANO10, APOPT1, APTX, ATAD3A, ATP1A3, ATP5A1, ATP5D, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, BTD, C10orf2, C12orf65, C19orf12, C19orf70, C1QBP, CA5A, CAD, CARS2, CCDC115, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CISD2, CLPB, CLPP, COA3, COA5, COA6, COA7, COLQ, COQ2, COQ4, COQ6, COQ7, COQ8A, COQ8B, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CPT1A, CPT2, CYC1, CYCS, D2HGDH, DARS, DARS2, DCC, DGUOK, DHTKD1, DLAT, DLD, DMPK, DNA2, DNAJC19, DNAJC3, DNM1L, DNM2, DOK7, DPAGT1, EARS2, ECHS1, EIF2AK3, ELAC2, EPG5, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FDX2, FDXR, FH, FLAD1, FOXRED1, FXN, G6PC, GARS, GATM, GBE1, GDAP1, GFAP, GFER, GFM1, GFM2, GFPT1, GLRX5, GLUD1, GTPBP3, HARS2, HCCS, HIBCH, HLCS, HMGCL, HSD17B10, HSPD1, HTRA2, IARS2, IBA57, IDH3B, IER3IP1, ISCA1, ISCA2, ISCU, KARS, KIF21A, KIF5A, LAMP2, LARS, LARS2, LIAS, LIPT1, LIPT2, LONP1, LRP4, LRPPRC, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICU1, MIPEP, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRPS7, MSTO1, MTFMT, MTM1, MTO1, MTPAP, MUSK, NADK2, NARS2, NAXE, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF8, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OPA1, OPA3, PANK2, PARS2, PC, PDGFB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PITRM1, PMPCA, PMPCB, PNPLA2, PNPLA8, PNPT1, POLG, POLG2, PPA2, PREPL, PTCD1, PTRH2, PUS1, PYCR1, PYCR2, QARS, QRSL1, RAPSN, RARS2, RMND1, RNASEH1, ROBO3, RRM2B, RTN4IP1, RYR1, SACS, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEPSECS, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A19, SLC25A20, SLC25A22, SLC25A26, SLC25A3, SLC25A32, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC33A1, SLC6A8, SPATA5, SPG7, STAT2, SUCLA2, SUCLG1, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TIMM50, TIMM8A, TIMMDC1, TK2, TMEM126A, TMEM126B, TMEM70, TOP3A, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, VPS13C, WARS2, WFS1, XPNPEP3, XRCC4, YARS2(~ 323 Gene)
Kreatin-Stoffwechsel assoziierte Erkrankungen
GAMT, GATM, SLC6A8
(~ 3 Gene)

Lysosomale Krankheiten

Morbus Fabry
GLA
(~ 1 Gen)
Mukopolysaccharidosen (MPS) und Oligosaccharidosen (OS)
AGA, ARSB, CTSA, CTSK, FUCA1, GALNS, GLB1, GNPTAB, GNPTAG, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, SGSH, SLC17A5(~ 23 Gene)
Sphingolipidosen
ARSA, ASAH1, ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSA, CTSD, CTSF, DNAJC5, GALC, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTAG, GRN, HEXA, HEXB, KCTD7, LIPA, MFSD8, NPC1, NPC2, PPT1, PSAP, SCARB2, SMPD1, SUMF1, TPP1(~ 32 Gene)
Neuronale Ceroidlipofuscinosen
ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1(~ 13 Gene)
Lysosomalen-Erkrankungen gesamtes Panel
AGA, ARSA, ARSB, ASAH1, CLN3, CLN5, CLN6, CLN8, CTNS, CTSA, CTSD, CTSK, DNAJC5, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNE, GNPTAB, GNS, GRN, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, OSTM1, PPT1, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, TPP1(~ 51 Gene)

Peroxisomale Krankheiten

Refsum Syndrom
PHYH
(~ 1 Gen)
Adrenoleukodystrophie (X-ALD)
ABCD1
(~ 1 Gen)
Peroxisomenbiogenese-Defekte (Zellweger-Syndrome, Neonatale Adrenoleukodystrophie und Infantile Refsum-Krankheit)
PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7(~ 14 Gene)
Rhizomele Condrodysplasia punctata (RCDP)
AGPS, GNPAT, PEX5, PEX7
(~ 4 Gene)
Peroxisomalen-Erkrankungen gesamtes Panel
ABCD1, ABCD3, ACOX1, AGK, AGPS, AGXT, AMACR, ARSE, CAT, CBS, DNM1L, DYM, EBP, FAR1, GNPAT, GRHPR, HOGA1, HSD17B4, IDH1, MFF, NSDHL, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, TRIM37(~ 38 Gene)
Auftragsformular Nierenerkrankungen/Endokrinologie

Nierenerkrankungen

Polyzystische Nieren (inkl. PKD1 und PKD2)
ANKS6, BICC1, CEP164, CEP83, COL4A1, CRB2, DNAJB11, DZIP1L, GANAB, HNF1B, INVS, MAPKBP1, MUC1, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PKD1, PKD2, PKHD1, PRKCSH, SALL1, SEC63, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR19(~ 31 Gene)
Alport-Syndrom
COL4A3, COL4A4, COL4A5, MYH9
(~ 4 Gene)
Nephrokalzinose und Nephrolithiasis (Cystinurie, primäre Hyperoxalurie, Dent-Syndrom)
AGXT, ALPL, APRT, ATP6V0A4, ATP6V1B1, BSND, CA2, CASR, CLCN5, CLCNKB, CLDN16, CLDN19, CYP24A1, GRHPR, HOGA1, KCNJ1, OCRL, SLC12A1, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, STRADA, TRPM6, XDH(~ 27 Gene)
Nephrotisches Syndrom
ACTNA4, ANLN, APOA1, APOL1, ARHGAP24, ARHGDIA, B2M, CD2AP, COQ8B, CRB2, DGKE, EMP2, FGA, FN1, GFND1, INF2, KANK2, LAMB2, LMX1B, LYZ, MAGI2, MYO1E, NPHS1, NPHS2, NUP107, NUP133, NUP160, NUP205, NUP85, NUP93, PAX2, PLCE1, PTPRO, SGPL1, TRPC6, WT1(~ 36 Gene)
Nephronophthise
ANKS6, CEP164, CEP290, CEP83, DCDC2, GLIS2, INVS, IQCB1, LMX1B, MAPKBP1, NEK8, NPHP1, NPHP3, NPHP4, SDCCAG8, SLC41A1, TMEM67, TRAF3IP1, TTC21B, WDR19, XPNPEP3, ZNF423(~ 22 Gene)
Renale Tubulopathie
ALDOB, AQP2, ATP6V0A4, ATP6V1B1, AVPR2, BSND, CA2, CLCN5, CLCNKB, CLDN16, COG6, CTNS, EHHADH, ETFA, ETFB, ETFDH, FAH, FOXI1, HNFA4, JAG1, KCNJ1, LRP2, NOTCH2, OCRL, PMM2, RRM2B, SLC12A1, SLC12A3, SLC2A2, SLC34A1, SLC4A1, SLC4A4, SLC5A1, VIPAS39, VPS33B, WDR72(~ 36 Gene)
Renale tubuläre Dysgenesie
ACE, AGT, AGTR1, REN
(~ 4 Gene)
Hyperkaliämie (Pseudohypoaldosteronismus I und II)
CUL3, KLHL3, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4
(~ 7 Gene)
Hypokaliämie (Gitelman und Bartter Syndrom)
BSND, CASR, CLCNKA, CLCNKB, KCNJ1, KCNJ10, MAGED2, SLC12A1, SLC12A3
(~ 9 Gene)
Hypophosphatämie (Vitamine-D-resistente Spätrachitis, hypophosphatämische familiäre Rachitis und renales Fanconi-Syndrom)
CLCN5, CYP27B1, CYP2R1, CYP3A4, DMP1, EHHADH, ENPP1, FAH, FAM20C, FGF23, FGFR1, HNFA4, KL, PHEX, SLC2A2, SLC34A1, SLC34A3, SLC9A3R1, VDR(~ 18 Gene)
Familiär hämolytisch-urämisches Syndrom (HUS)
CFB, CFH, CFHR1, CFHR3, CFI, C3, DGKE, MCP, THBD
(~ 9 Gene)
Fehlbildungen der Nieren und ableitenden Harnwege (CAKUT)
ACE, ACTA2, ACTG2, AGT, AGTR1, ANOS1, BICC1, BMP4, BMP7, BNC2, BSND, CHD1L, CHD7, CHRM3, COX10, DACT1, DLG3, DSTYK, EYA1, FGF20, FOXC1, FOXC2, FRAS1, FREM1, FREM2, GATA3, GDNF, GLI3, GREB1L, GREM1, GRIP1, HAAO, HCN3, HNF1B, HPSE2, ITGA8, KIT, KYNU, LRIG2, MUC1, MYH11, NEK8, NPHP3, OCRL, PAX2, PBX1, REN, RET, ROBO2, RPGRIP1L, RRM2B, SALL1, SHH, SIX1, SIX5, SLIT2, SMARCA4, SOX17, SPRY1, TBX18, TNXB, TRAP1, TSHZ3, UMOD, UPK2, UPK3A, VIPAS39, VPS33B, WNT4, ZIC3(~ 70 Gene)

Endokrinologie

MODY (Maturity Onset Diabetes of the Young)
ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, PAX4, PDX1(~ 12 Gene)
Hypogonadotroper Hypogonadismus (inkl. Kallmann-Syndrom)
ANOS1, ARNT2, AXL, CCDC141, CDON, CGA, CHD7, CUL4A, CUL4B, DCC, DMXL2, DUSP6, FARP2, FEZF1, FGF17, FGF8, FGFR1, FLRT3, FSHB, FURIN, GNRH1, GNRH2, GNRHR, GPR161, HESX1, HS6ST1, IGSF10, IL17RD, INHBA, KISS1, KISS1R, LEP, LEPR, LHB, LHX2, LHX3, LHX4, LIFR, MKRN3, NPFFR1, NPVF, NPY, NR0B1, NRP1, NRP2, NSMF, NTN1, OPRK1, OTUD4, OTX2, PCSK1, PCSK2, PDYN, PLXNA1, PLXNC1, PNPLA6, POLR3B, POU1F1, POU2F1, POU3F2, PRLR, PROK2, PROKR2, PROP1, RNF216, ROBO3, SEMA3A, SEMA3E, SEMA7A, SHH, SIRT1, SIX6, SLIT2, SLIT3, SOX10, SOX2, SOX3, SPRY4, SRA1, STUB1, TAC1, TAC3, TACR1, TACR2, TACR3, TENM1, TGIF1, TSHZ1, WDR11, ZIC1(~ 90 Gene)
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