Panel für Epilepsie, Hirnentwicklungsstörungen und Stoffwechselerkrankungen

Infor­ma­tio­nen

Das Dia­gnos­tik-Panel für Epi­lep­sie und Hirn­ent­wick­lungs­stö­run­gen umfasst 670 Gene. Alle die­se Gene wer­den par­al­lel sequen­ziert und die Gene inter­pre­tiert, die mit dem Phä­no­typ des Pati­en­ten asso­zi­iert sind. Unten fin­den Sie, neben allen Genen des Panels, unse­re vor­ge­schla­ge­nen Gen-Sets.

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

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

Metho­de

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

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

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

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

Dau­er der Unter­su­chung: 4–6 Wochen

Epilepsie

Fami­liä­re und Idio­pa­thi­sche Epi­lep­sie (EPI01)

Fami­liä­re Epi­lep­si­en – häu­figs­te gene­ti­sche Ursa­chen
PRRT2, KCNQ2, SCN1A, SCN2A, SLC2A1, DEPDC5, KCNT1 (7 Gene, 25 kb)

Benig­ne fami­liä­re neo­na­ta­le und früh­in­fan­ti­le Epi­lep­sie
PRRT2, KCNQ2, SCN2A, KCNQ3, SCN8A (5 Gene, 18 kb)

Foka­le Epi­lep­sie
DEPDC5, GRIN2A, LGI1, KCNT1, CHRNA4, CHRNB2, NPRL3, NPRL2, PCDH19, RELN (10 Gene, 25 kb)

Gene­ti­sche gene­ra­li­sier­te Epi­lep­sie / GEFS+
SCN1A, SLC2A1, STX1B, GABRA1, GABRB3, GABRG2, TBC1D24, CACNA1A, SCN1B, RORB (10 Gene, 24 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ALDH7A1, CACNA1A, CHRNA2, CHRNA4, CHRNB2, DEPDC5, GABRA1, GABRB3, GABRG2, GRIN2A, KCNA1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MTOR, NPRL2, NPRL3, PCDH19, PRRT2, RELN, RORB, SCN1A, SCN1B, SCN2A, SCN8A, SLC1A3, SLC2A1, STX1B, TBC1D24 (31 Gene, 96 kb)

Ein­sen­de­for­mu­lar

Epi­lep­sie und Ent­wick­lungs­stö­rung (inkl. epi­lep­ti­sche Enze­pha­lo­pa­thie) (EPI02)

Früh­in­fan­ti­le epi­lep­ti­sche Enze­pha­lo­pa­thie (männ­li­che Pati­en­ten)
SCN1A, KCNQ2, SCN2A, STXBP1, FOXG1, SCN8A, KCNT1 (7 Gene, 25 kb)

Früh­in­fan­ti­le epi­lep­ti­sche Enze­pha­lo­pa­thie (weib­li­che Pati­en­ten)
SCN1A, CDKL5, PCDH19, MECP2, KCNQ2, SCN2A, STXBP1, FOXG1 (8 Gene, 25 kb)

Früh­kind­li­che Epi­lep­sie mit migrie­ren­den foka­len Anfäl­len (EIMFS/MMPSI)
KCNT1, SCN1A, SCN2A, TBC1D24, SLC12A5, SLC25A22, PLCB1 (7 Gene, 25 kb)

Dra­vet-Syn­drom und Dif­fe­ren­ti­al­dia­gno­sen
SCN1A, SCN1A (MLPA), PCDH19, SCN2A, CHD2, GABRA1, STXBP1, HCN1 (9 Gene, 25 kb)

Epi­lep­sie mit myo­k­lo­nisch-ato­ni­schen Anfäl­len (MAE)
SLC6A1, SLC2A1, CHD2, SCN1A, SYNGAP1, GABRB3, GABRA1, SCN2A (8 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AARS, ALDH7A1, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, BRAT1, CACNA1A, CAD, CASK, CDKL5, CHD2, CLCN4, CNNM2, DDX3X, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABRA1, GABRB1, GABRB2, GABRB3, GAMT, GLDC, GNAO1, GNB1, GRIN1, GRIN2A, GRIN2B, GRIN2D, HACE1, HCN1, HNRNPU, IQSEC2, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, KIAA2022, MBD5, MBOAT7, MDH2, MECP2, MEF2C, MOCS1, MOCS2, NECAP1, PACS2, PCDH19, PIGA, PLCB1, PLPBP, PNKP, PNPO, POLG, PURA, QARS, ROGDI, SCN1A, SCN2A, SCN8A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPTAN1, ST3GAL3, ST3GAL5, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, TCF4, TPP1, TSC1, TSC2, UBA5, UBE3A, WDR45, WWOX, ZEB2 (97 Gene, 260 kb)

Ein­sen­de­for­mu­lar

Pro­gres­si­ve Myo­k­lo­nu­s­epi­lep­sie und Neu­ro­na­le Cero­id-Lipo­fus­zi­no­se (EPI05)

Pro­gres­si­ve Myo­k­lo­nu­s­epi­lep­sie
CSTB (Repeat), CSTB, EPM2A, NHLRC1, KCTD7, NEU1, KCNC1, ASAH1, AFG3L2, GOSR2, CERS1, SERPINI1, SCARB2, PRICKLE1, CARS2, LMNB2, PRDM8 (16 Gene, 22 kb)

Neu­ro­na­le Ceroid­li­po­fus­zi­no­se
PPT1*, TPP1*, CLN3*, DNAJC5, CLN5, CLN6*, MFSD8, CLN8*, CTSD, KCTD7, GRN, CTSF, ATP13A2 (13 Gene, 18 kb, * inkl. MLPA)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AFG3L2, ASAH1, ATP13A2, CARS2, CERS1, CLN3, CLN5, CLN6, CLN8, CSTB, CTSD, CTSF, DNAJC5, EPM2A, GOSR2, GRN, KCNC1, KCTD7, LMNB2, MFSD8, NEU1, NHLRC1, PPT1, PRDM8, PRICKLE1, SCARB2, SERPINI1, TPP1 (28 Gene, 40 kb)

Ein­sen­de­for­mu­lar

GPI-Anker-Defi­zi­enz mit oder ohne Hyper­phos­phata­sie (EPI12)

GPI-Anker-Defi­zi­enz mit oder ohne Hyper­phos­phata­sie
PIGN, PIGV, PIGA, PIGO, PGAP2, PGAP3, PGAP1, PIGL, PIGT, PIGW, PIGG, PIGM, PIGY (13 Gene, 22 kb)

Ein­sen­de­for­mu­lar

Migrä­ne (EPI14)

Fami­liä­re hemi­ple­gi­sche Migrä­ne
ATP1A2, CACNA1A, ATP1A3, SCN1A, PRRT2, SLC2A1 (6 Gene, 22 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ATP1A2, ATP1A3, CACNA1A, NOTCH3, POLG, PRRT2, SCN1A, SLC1A3, SLC2A1 (9 Gene, 34 kb)

Ein­sen­de­for­mu­lar

Hyperek­ple­xie (EPI15)

Hyperek­ple­xie
GLRA1*, SLC6A5*, GLRB* (3 Gene, 5 kb, * inkl. MLPA)

Ein­sen­de­for­mu­lar

Metabolische/Mitochondriale Epi­lep­sie (EPI19)

Pyri­do­xin- und Fol­säu­re-abhän­gi­ge Epi­lep­sie
ALDH7A1, PNPO, MTHFR, FOLR1, PLPBP, SLC46A1, DHFR (7 Gene, 8 kb)

Gly­cin-Enze­pha­lo­pa­thie
GLDC*, AMT*, LIAS, SLC6A9, GCSH* (5 Gene, 8 kb, * inkl. MLPA)

Cere­b­ra­le Krea­tin-Defi­zi­enz
SLC6A8, GAMT, GATM (3 Gene, 4 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AARS2, ABAT, ABCC8, ACY1, ADCK3, ADK, ADSL, ALDH5A1, ALDH7A1, AMT, ATIC, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BTD, CAD, CARS2, CNNM2, COQ4, COX8A, CPT1A, CPT2, D2HGDH, DARS2, DBT, DHFR, DLD, DNM1L, DPYD, EARS2, ETFA, ETFB, ETFDH, ETHE1, FARS2, FOLR1, FOXRED1, GAMT, GATM, GCDH, GCH1, GCK, GCSH, GFM1, GLDC, GLUD1, GLUL, GPHN, HADH, HLCS, HPD, IDH2, INSR, ITPA, IVD, KCNJ11, L2HGDH, LIAS, MDH2, MLYCD, MMACHC, MOCS1, MOCS2, MT-ATP6 (m.8993T>G/C), MT-TK (m.8344A>G), MT-TL1 (m.3243A>G, m.3271T>C), MTHFR, NARS2, NDUFA1, PC, PCBD1, PCCA, PCCB, PDHA1, PDHX, PDSS2, PET100, PHGDH, PLPBP, PNPO, POLG, PSAT1, PSPH, PTS, QDPR, SDHA, SLC16A1, SLC19A3, SLC1A2, SLC25A1, SLC2A1, SLC46A1, SLC6A8, SLC6A9, SUOX, SURF1, TWNK, VARS2 (100 Gene, 154 kb)

Ein­sen­de­for­mu­lar

Hirnentwicklungsstörungen

Pri­mä­re Mikro­ze­pha­lie und Pon­to­ce­re­bel­lä­re Hypo­p­la­sie (BRN01)

Pri­mä­re Mikro­ze­pha­lie
ASPM*, WDR62, MCPH1*, FOXG1, CASK, CDK5RAP2* (6 Gene, 25 kb, * inkl. MLPA)

Pon­to­ce­re­bel­lä­re Hypo­p­la­sie
TSEN54, TSEN2, TSEN34, CASK, AMPD2, RARS2, CHMP1A, CLP1, EXOSC3, EXOSC8, VPS53, VRK1, SEPSECS, TSEN15, TOE1 (15 Gene, 22 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AMPD2, ANKLE2, ASNS, ASPM, ATR, BRF1, CASK, CDC45, CDC6, CDK5RAP2, CDK6, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CHMP1A, CIT, CKAP2L, CLP1, DYRK1A, EIF2S3, EXOSC3, EXOSC8, FOXG1, GMNN, IER3IP1, KAT6A, KIF11, KNL1, MBD5, MCPH1, MFSD2A, NIN, NSMCE2, ORC1, ORC4, ORC6, PCLO, PHC1, PLK4, PNKP, PPP1R15B, PQBP1, QARS, RARS2, RBBP8, SASS6, SEPSECS, SLC1A4, SLC25A19, SMARCA2, SPATA5, STAMBP, STIL, TOE1, TRAIP, TRMT10A, TSEN15, TSEN2, TSEN34, TSEN54, TUBGCP4, TUBGCP6, VLDLR, VPS53, VRK1, WDR62, WDR73, ZNF335 (71 Gene, 204 kb)

Ein­sen­de­for­mu­lar

Neu­ro­na­le Migra­ti­ons­stö­run­gen (BRN02)

Lis­sen­ze­pha­lie
PAFAH1B1 (MLPA), PAFAH1B1, DCX, DCX (MLPA), ARX, TUBA1A, RELN, NDE1, LAMB1, KATNB1, TMTC3 (9 Gene, 25 kb)

Mus­kel­dys­tro­phie-Dys­tro­gly­ca­no­pa­thi­en (inkl. Wal­ker-War­burg-Syn­drom)
POMT1, POMGNT1, FKRP, FKTN, POMT2, LARGE, ISPD, POMK, TMEM5, B3GALNT2, B3GNT1, GMPPB, DAG1, POMGNT2 (14 Gene, 24 kb)

Poly­mi­kro­gy­rie
ADGRG1, TUBB2B, PIK3CA, PIK3R2, AKT3, CCND2, KIF1BP, PI4KA, GRIN2B, TUBA8 (10 Gene, 25 kb)

Periv­en­tri­ku­lä­re Hete­ro­to­pie
FLNA, ARFGEF2, DCHS1, NEDD4L (4 Gene, 25 kb)

Kor­ti­ka­le Mal­for­ma­tio­nen (“Tubu­li­no­pa­thi­en”)
TUBA1A, TUBB2B, TUBB3, TUBB, TUBG1, TUBA8, WDR62, LAMC3, KIF2A, KIF5C, TUBB2A (11 Gene, 24 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, B3GALNT2, B3GNT1, CCND2, CDK5, COL4A1, COL4A2, CRADD, DAG1, DCHS1, DCX, DDX3X, DYNC1H1, EMX2, ERMARD, FAT4, FH, FKRP, FKTN, FLNA, GMPPB, GRIN1, GRIN2B, IER3IP1, ISPD, KATNB1, KIF1BP, KIF2A, KIF5C, LAMB1, LAMC3, LARGE, MEF2C, MTOR, NDE1, NEDD4L, OCLN, PAFAH1B1, PI4KA, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRUNE1, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SHH, SIX3, TBC1D20, TMEM5, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, WDR81 (72 Gene, 213 kb)

Ein­sen­de­for­mu­lar

Holo­pro­s­en­ze­pha­lie-Spek­trum (BRN03)

SHH*, ZIC2*, SIX3*, GLI2*, TGIF1*, CDON, PTCH1, FGFR1, TDGF1 (9 Gene, 22 kb, * inkl. MLPA)

Ein­sen­de­for­mu­lar

Makro­ze­pha­lie (BRN04)

Makro­ze­pha­lie — häu­fi­ge gene­ti­sche Ursa­chen
PTEN, NSD1, PTCH1, GCDH, GFAP, ASPA, MLC1, GPC3, EZH2, PIK3CA (10 Gene, 25 kb)

Sotos- / Wea­ver-Syn­drom und Dif­fe­ren­ti­al­dia­gno­sen
NSD1, NSD1 (MLPA), NFIX, APC2, EZH2, GPC3, DNMT3A, SETD2 (7 Gene, 25 kb)

(Hemi-) Mega­l­en­ze­pha­lie-Syn­dro­me und Hydro­ze­pha­lus
L1CAM, PIK3CA, AKT3, PIK3R2, MTOR, CCND2, CCDC88C (7 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AKT2, AKT3, APC2, ASPA, ASXL2, BRAF, BRWD3, CCDC88C, CCND2, CRADD, CUL4B, DNMT3A, EED, EZH2, FIBP, GCDH, GFAP, GPC3, HEPACAM, HERC1, HRAS, HUWE1, IGF2, KPTN, KRAS, L1CAM, MAP2K1, MAP2K2, MED12, MLC1, MTOR, NFIX, NRAS, NSD1, PHF6, PIGA, PIGN, PIGT, PIK3CA, PIK3R2, PPP2R5B, PPP2R5C, PPP2R5D, PTCH1, PTEN, RAB39B, RIN2, RNF125, RNF135, SETD2, SOS1, STRADA, TBC1D7 (53 Gene, 152 kb)

Ein­sen­de­for­mu­lar

Leu­ko­dys­tro­phie / Leu­ken­ze­pha­lo­pa­thie (BRN05)

Infan­ti­le und juve­ni­le Leu­ko­dys­tro­phie
ABCD1, ARSA, GALC, PLP1, ASPA, GFAP, GJC2, MLC1, EIF2B5, EIF2B2, EIF2B4, EIF2B3, EIF2B1, HEPACAM, TUBB4A, DARS2, AIMP1, RNASET2, PSAP (19 Gene, 25 kb)

Adul­te Leu­ko­dys­tro­phie
NOTCH3, ABCD1, ARSA, GALC, CYP27A1, CSF1R, LMNB1, GFAP, EIF2B5, HTRA1, MLC1, DARS2 (12 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AARS, AARS2, ABCD1, ACOX1, ADAR, AIMP1, ALDH3A2, ARSA, ASPA, BCAP31, CLCN2, CSF1R, CTC1, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FAM126A, FUCA1, GALC, GBE1, GCDH, GFAP, GJC2, HEPACAM, HIKESHI, HSD17B4, HSPD1, HTRA1, IFIH1, L2HGDH, LMNB1, MLC1, NAXE, NOTCH3, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLEKHG2, PLP1, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SCP2, SLC16A2, SLC17A5, SNORD118, SOX10, STN1, SUMF1, TREX1, TUBB4A, VPS11 (77 Gene, 134 kb)

Ein­sen­de­for­mu­lar

Aicar­di-Gou­tiè­res-Syn­drom (BRN06)

Aicar­di-Gou­tiè­res-Syn­drom
RNASEH2B*, TREX1*, RNASEH2C*, SAMHD1*, ADAR, RNASEH2A*, IFIH1 (7 Gene, 12 kb, * inkl. MLPA)

Ein­sen­de­for­mu­lar

Jou­bert-Syn­drom

Wir bit­ten Sie aktu­ell die­ses Gen­set über EYE07 im Ein­sen­de­for­mu­lar für Augen­er­kran­kun­gen anzu­for­dern.

Ein­sen­de­for­mu­lar

Cor­ne­lia-de-Lan­ge-Syn­drom (BRN08)

Cor­ne­lia-de-Lan­ge-Syn­drom
NIPBL, SMC1A, SMC3, HDAC8, RAD21, UBE2A (6 Gene, 19 kb)

Ein­sen­de­for­mu­lar

Cere­b­ra­le Mikro­an­gio­pa­thi­en (BRN09)

Cere­b­ra­le Mikro­an­gio­pa­thi­en
NOTCH3, COL4A1, GLA, HTRA1, CTC1, TREX1, STN1 (7 Gene, 20 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
CCM2, COL4A1, COL4A2, CTC1, GLA, HTRA1, KRIT1, NOTCH3, PDCD10, SNORD118, STN1, TREX1 (12 Gene, 30 kb)

Ein­sen­de­for­mu­lar

Cof­fin-Siris-Syn­drom (BRN12)

Cof­fin-Siris-Syn­drom
ARID1B, SMARCA4, SMARCB1, ARID1A, SMARCE1, SOX11 (6 Gene, 22 kb)

Ein­sen­de­for­mu­lar

Stoffwechselerkrankungen

CDG-Syn­drom (MET01)

Kon­ge­ni­ta­le Gly­ko­sy­l­ie­rungs­stö­run­gen (CDG-Syn­drom)
PMM2, MPI, ALG6, ALG1, PGM1, DPAGT1, ALG8, ALG12, NGLY1, SRD5A3, ALG3, ALG11, DPM1, COG5, SLC35C1, DOLK, CCDC115, MGAT2, MPDU1 (19 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, B4GALT1, CAD, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SLC39A8, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TMEM199, TUSC3 (48 Gene, 77 kb)

Ein­sen­de­for­mu­lar

Lys­o­so­ma­le Erkran­kun­gen (MET02)

Sphin­go­li­pi­do­sen (inkl. M. Gaucher/Krabbe/Fabry, sowie Nie­mann-Pick- und Tay-Sachs-Syn­drom)
GBA, GLA, GALC, NPC1, SMPD1, HEXA, ARSA, HEXB, SUMF1, NPC2, PSAP, GM2A (12 Gene, 19 kb)

Muko­po­lys­ac­chari­do­se
IDS, GALNS, IDUA, GLB1, ARSB, NAGLU, SGSH, HGSNAT, GUSB, GNS, HYAL1, VPS33A (12 Gene, 21 kb)

Muko­li­pi­do­sen und wei­te­re Gly­co­pro­te­inosen (inkl. Man­no­si­do­se, Fuco­si­do­se und Sial­in­säu­re­spei­ch­erkrank­heit)
GNPTAB, MAN2B1, NEU1, GNPTG, MCOLN1, AGA, SLC17A5, CTSA, FUCA1, MAN1B1, MANBA, NAGA (12 Gene, 22 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)
AGA, ARSA, ARSB, CTNS, CTSA, FUCA1, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LIPA, MAN1B1, MAN2B1, MANBA, MCOLN1, NAGA, NAGLU, NEU1, NPC1, NPC2, PSAP, SGSH, SLC17A5, SMPD1, SUMF1, VPS33A (38 Gene, 65 kb)

Ein­sen­de­for­mu­lar

Zell­we­ger-Syn­drom-Spek­trum (MET03)

Per­oxi­so­men­bio­ge­ne­se­de­fek­te: Zell­we­ger-Syn­drom-Spek­trum
PEX1, PEX6, PEX12, PEX26, PEX10, PEX2, HSD17B4, ACOX1, PEX5, PEX3, PEX13, PEX7, PEX16, PEX14, PEX19, PEX11B, SCP2 (17 Gene, 25 kb)

Ein­sen­de­for­mu­lar

Pyri­do­xin- und Fol­säu­re-abhän­gi­ge Epi­lep­sie (MET04)

Pyri­do­xin- und Fol­säu­re-abhän­gi­ge Epi­lep­sie
ALDH7A1, PNPO, MTHFR, FOLR1, PLPBP, SLC46A1, DHFR (7 Gene, 8 kb)

Ein­sen­de­for­mu­lar

Harn­stoff­zy­klus­de­fek­te (MET05)

Harn­stoff­zy­klus­de­fek­te
OTC, ASL, ASS1, CPS1, ARG1, NAGS, SLC25A13, SLC25A15 (8 Gene, 13 kb)

Ein­sen­de­for­mu­lar

Gly­cin-Enze­pha­lo­pa­thie (MET06)

Gly­cin-Enze­pha­lo­pa­thie
GLDC*, AMT*, LIAS, SLC6A9, GCSH* (5 Gene, 8 kb, * inkl. MLPA)

Ein­sen­de­for­mu­lar

Hyper­phe­nyl­ala­nin­ämie (MET07)

Hyper­phe­nyl­ala­nin­ämie
PAH, GCH1, PTS, QDPR, PCBD1, DNAJC12 (6 Gene, 4 kb)

Ein­sen­de­for­mu­lar

Ahorn­si­rup-Krank­heit und DLD-Defi­zi­enz (MET08)

Ahorn­si­rup-Krank­heit und DLD-Defi­zi­enz
BCKDHA, BCKDHB, DBT, DLD (4 Gene, 5 kb)

Ein­sen­de­for­mu­lar

Molyb­dän-Cofak­tor-Defi­zi­enz und Sul­fi­t­oxi­da­se-Man­gel (MET09)

Molyb­dän-Cofak­tor-Defi­zi­enz und Sul­fi­t­oxi­da­se-Man­gel
MOCS1, MOCS2, SUOX, GPHN (4 Gene, 6 kb)

Ein­sen­de­for­mu­lar

Methyl­malo­na­zi­du­rie (MET10)

Methyl­malo­na­zi­du­rie
MUT, MMACHC, MMAA, MMAB, MMADHC, LMBRD1, MCEE, MLYCD, ACSF3, HCFC1, ALDH6A1, ABCD4, CD320, SUCLA2, SUCLG1 (15 Gene, 24 kb)

Ein­sen­de­for­mu­lar

3-Methyl­glut­aco­na­zi­du­rie (MET11)

3-Methyl­glut­aco­na­zi­du­rie
TAZ, SERAC1, CLPB, AUH, OPA3, DNAJC19 (6 Gene, 7 kb)

Ein­sen­de­for­mu­lar

Hyper­in­su­lin­ämi­sche Hypo­gly­kä­mie (MET12)

Hyper­in­su­lin­ämi­sche Hypo­gly­cä­mie
ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, INSR (7 Gene, 15 kb)

Ein­sen­de­for­mu­lar

Matu­ri­ty-onset Dia­be­tes of the Young (MODY) (MET13)

Matu­ri­ty-onset Dia­be­tes of the Young (MODY)
GCK, HNF1A, HNF4A, HNF1B, INS, CEL, NEUROD1, PDX1, ABCC8, PAX4, BLK, KLF11 (12 Gene, 20 kb)

Ein­sen­de­for­mu­lar

Gly­ko­gen­spei­cher­er­kran­kun­gen (MET14)

Leber-Gly­ko­ge­no­se
G6PC, SLC37A4, AGL, PYGL, PHKA2, PHKB, PHKG2, GBE1, GYS2, FBP1, SLC2A2 (11 Gene, 25 kb)

Mus­kel-Gly­ko­ge­no­se
GAA, PYGM, PFKM, PGAM2, LDHA, PHKA1, LAMP2, AGL, GBE1, GYS1, GYG1, ALDOA (12 Gene, 25 kb)

Gly­ko­gen­spei­cher­er­kran­kun­gen Typ I bis XI
GAA, PYGM, G6PC, SLC37A4, AGL, PYGL, PHKA2, GBE1, PFKM, PGAM2, LDHA (11 Gene, 25 kb)

Voll­stän­di­ges Gen-Set (für pri­vat Ver­si­cher­te / Selbst­zah­ler)

AGL, ALDOA, ENO3, FBP1, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4 (23 Gene, 47 kb)

Ein­sen­de­for­mu­lar

Stö­run­gen der Fett­säu­re­oxi­da­ti­on (MET15)

Stö­run­gen der Fett­säu­re­oxi­da­ti­on
ACADVL, ACADM, ACADS, HADHA, HADH, ACADSB, HMGCL, HMGCS2, SLC22A5, CPT2, CPT1A, SLC25A20, ETFDH, ETFA, ETFB (15 Gene, 22 kb)

Ein­sen­de­for­mu­lar

Kom­plet­tes Panel – Epi­lep­sie, Hirn­ent­wick­lungs­stö­run­gen und Stoff­wech­sel­er­kran­kun­gen (670 Gene)

AARS, AARS2, ABAT, ABCC8, ABCD1, ABCD4, ACADM, ACADS, ACADSB, ACADVL, ACOX1, ACSF3, ACTB, ACTG1, ACY1, ADAR, ADCK3, ADGRG1, ADK, ADSL, AFG3L2, AGA, AGL, AIMP1, AKT2, AKT3, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMACR, AMPD2, AMT, ANKLE2, AP3B2, APC2, APOPT1, ARFGEF2, ARG1, ARHGEF9, ARID1A, ARID1B, ARSA, ARSB, ARV1, ARX, ASAH1, ASL, ASNS, ASPA, ASPM, ASS1, ASXL2, ATIC, ATP13A2, ATP1A2, ATP1A3, ATR, AUH, B3GALNT2, B3GNT1, B4GALT1, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BLK, BOLA3, BRAF, BRAT1, BRF1, BRWD3, BTD, CACNA1A, CAD, CARS2, CASK, CCDC115, CCDC88C, CCM2, CCND2, CD320, CDC45, CDC6, CDK5, CDK5RAP2, CDK6, CDKL5, CDON, CDT1, CEL, CENPE, CENPJ, CEP135, CEP152, CEP63, CERS1, CHD2, CHMP1A, CHRNA2, CHRNA4, CHRNB2, CIT, CKAP2L, CLCN2, CLCN4, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CNNM2, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL4A1, COL4A2, COQ4, COX8A, CPS1, CPT1A, CPT2, CRADD, CSF1R, CSTB, CTC1, CTNS, CTSA, CTSD, CTSF, CUL4B, CYP27A1, D2HGDH, DAG1, DARS, DARS2, DBT, DCHS1, DCX, DDOST, DDX3X, DENND5A, DEPDC5, DHDDS, DHFR, DLD, DNAJC12, DNAJC19, DNAJC5, DNM1, DNM1L, DNMT3A, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYD, DYNC1H1, DYRK1A, EARS2, EED, EEF1A2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EMX2, ENO3, EPM2A, ERCC6, ERCC8, ERMARD, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, EXOSC8, EZH2, FA2H, FAM126A, FARS2, FAT4, FBP1, FGF12, FGFR1, FH, FIBP, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FUCA1, G6PC, GAA, GABRA1, GABRB1, GABRB2, GABRB3, GABRG2, GALC, GALNS, GAMT, GAN, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GFAP, GFM1, GJC2, GLA, GLB1, GLDC, GLI2, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GM2A, GMNN, GMPPA, GMPPB, GNAO1, GNB1, GNPTAB, GNPTG, GNS, GOSR2, GPC3, GPHN, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRN, GUSB, GYG1, GYS1, GYS2, HACE1, HADH, HADHA, HCFC1, HCN1, HDAC8, HEPACAM, HERC1, HEXA, HEXB, HGSNAT, HIKESHI, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HNRNPU, HPD, HRAS, HSD17B4, HSPD1, HTRA1, HUWE1, HYAL1, IBA57, IDH2, IDS, IDUA, IER3IP1, IFIH1, IGF2, INS, INSR, IQSEC2, ISCA2, ISPD, ITPA, IVD, KAT6A, KATNB1, KCNA1, KCNA2, KCNB1, KCNC1, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM6A, KIAA2022, KIF11, KIF1BP, KIF2A, KIF5A, KIF5C, KLF11, KMT2D, KNL1, KPTN, KRAS, KRIT1, L1CAM, L2HGDH, LAMA2, LAMB1, LAMC3, LAMP2, LARGE, LDHA, LGI1, LIAS, LIPA, LMBRD1, LMNB1, LMNB2, LYRM7, MAN1B1, MAN2B1, MANBA, MAP2K1, MAP2K2, MBD5, MBOAT7, MCEE, MCOLN1, MCPH1, MDH2, MECP2, MED12, MEF2C, MFSD2A, MFSD8, MGAT2, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MT-ATP6 (m.8993T>G/C), MTFMT, MTHFR, MTOR, MT-TK (m.8344A>G), MT-TL1 (m.3243A>G, m.3271T>C), MUT, NAGA, NAGLU, NAGS, NARS2, NAXE, NDE1, NDUFA1, NDUFS1, NDUFV1, NECAP1, NEDD4L, NEU1, NEUROD1, NFIX, NFU1, NGLY1, NHLRC1, NIN, NIPBL, NOTCH3, NPC1, NPC2, NPRL2, NPRL3, NRAS, NSD1, NSMCE2, NUS1, OCLN, OPA3, ORC1, ORC4, ORC6, OTC, PACS2, PAFAH1B1, PAH, PAX4, PC, PCBD1, PCCA, PCCB, PCDH19, PCLO, PDCD10, PDHA1, PDHX, PDSS2, PDX1, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGAP1, PGAP2, PGAP3, PGM1, PHC1, PHF6, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PI4KA, PIGA, PIGG, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLEKHG2, PLK4, PLP1, PLPBP, PMM2, PNKP, PNPO, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP1R15B, PPP2R5B, PPP2R5C, PPP2R5D, PPT1, PQBP1, PRDM8, PRICKLE1, PRKAG2, PRRT2, PRUNE1, PSAP, PSAT1, PSPH, PTCH1, PTEN, PTS, PURA, PYCR2, PYGL, PYGM, QARS, QDPR, RAB18, RAB39B, RAB3GAP1, RAB3GAP2, RAD21, RARS, RARS2, RBBP8, RELN, RFT1, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF135, ROGDI, RORB, RTTN, SAMHD1, SASS6, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SCP2, SDHA, SDHAF1, SEPSECS, SERAC1, SERPINI1, SETD2, SGSH, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A1, SLC16A2, SLC17A5, SLC19A3, SLC1A2, SLC1A3, SLC1A4, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC2A1, SLC2A2, SLC35A1, SLC35A2, SLC35C1, SLC37A4, SLC39A8, SLC46A1, SLC6A1, SLC6A5, SLC6A8, SLC6A9, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMPD1, SNORD118, SOS1, SOX10, SOX11, SPATA5, SPTAN1, SRD5A3, SSR4, ST3GAL3, ST3GAL5, STAMBP, STIL, STN1, STRADA, STT3A, STT3B, STX1B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SURF1, SYNGAP1, SYNJ1, SZT2, TAZ, TBC1D20, TBC1D24, TBC1D7, TCF4, TDGF1, TGIF1, TMEM165, TMEM199, TMEM5, TMTC3, TOE1, TPP1, TRAIP, TREM2, TREX1, TRMT10A, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TUSC3, TWNK, TYMP, TYROBP, UBA5, UBE2A, UBE3A, VARS2, VLDLR, VPS11, VPS33A, VPS53, VRK1, WDR45, WDR62, WDR73, WDR81, WWOX, ZEB2, ZIC2, ZNF335

Ein­sen­de­for­mu­lar