Genpanel Diagnostik

TumorerkrankungenFortpflanzungsmedizin / KinderwunschGastroenterologische ErkrankungenLungenerkrankungenHauterkrankungenAutoinflammatorische ErkrankungenNeurogenetikSensorische Erkrankungen (Ohr/Auge)Herz-/BindegewebserkrankungenEntwicklungsstörungen/SyndromeStoffwechselerkrankungenNierenerkrankungen/EndokrinologiePharmakogenetik

Auftragsformular Tumorerkrankungen

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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

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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 )

Erweiterte fetale Exom-Abklärung bei sonografischen Auffälligkeiten nach unauffälliger Pränataldiagnostik ( Genetische Beratung nötig )

Auftragsformular Gastroenterologische Erkrankungen

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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

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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

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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

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Auftragsformular Autoinflammatorische Erkrankungen

Hereditäre periodische Fieber

MEFV, MVK, NLRP3, TNFRS1A
(~ 4 Gene)

Autoinflammatorische Erkrankungen

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

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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

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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

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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

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Auftragsformular Entwicklungsstörungen/Syndrome

Chromosomenstörung

Karyotypisierung, konventionnelle – Heparin-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

Uniparentale Disomien und Methylierung-Defekte

UPD 7 (Russel-Silver-Syndrom)

UPD 11 (Beckwith-Wiedemann- und Russel-Silver-Syndrome)

UPD 14 (Temple- und Kagami-Syndrome)

UPD 15 (Prader-Willi- und Angelman-Syndrome)

UPD 16 und 22

Auftragsformular Stoffwechselerkrankungen

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Auftragsformular Stoffwechselerkrankungen

Akute u/o Subakute Intoxikation

Hyperammonämie

ALDH18A1, ARG1, ASL, ASS1, CA5A, CPS1, GLUD1, NAGS, OAT, OTC, SLC25A13, SLC25A15, SLC3A2, SLC7A7(~ 14 Gene)

Ahornsirupkrankheit

BCKDHA, BCKDHB, DBT
(~ 3 Gene)

Klassische Organoazidurien (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 Acyl-CoA-Dehydrogenase-Mangel (Glutarazidurie Typ II)

ETFA, ETFB, ETFDH
(~ 3 Gene)

Defekte des Biotinstoffwechsels (Biotinidase- und Holokarboxylasesynthetase-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

Hyperphenylalaninämie (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)

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)

Hypoglykämie 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

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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)

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