• Medicalport Hastanesi, Kurtuluş Caddesi, No:70, GİRNE

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Nörolojik Hastalık Genetik Panelleri


Alzheimer cardiovascular SNPs (Tek nükleotid polimorfizmleri) panel (Test yöntemi: Sanger sequencing, Test sonuçlanması: 20 gün, Numune türü: EDTA tüp)

ACT, APOE, IL-1B, IL-10, VEGF, HMGCR

 

Alzheimer Disease (expanded panel) panel (Test yöntemi: NGS, Test sonuçlanması: 20 gün, Numune türü: EDTA tüp)

APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2

 

Alzheimer Disease Early-Onset Autosomal dominant (PESEN1, PSEN2) (Test yöntemi: NGS, Test sonuçlanması: 20 gün, Numune türü: EDTA tüp)

PSEN2, PSEN1

 

AutismScreen® 93 genes screening associated with autism (Test yöntemi: NGS, Test sonuçlanması: 30 gün, Numune türü: EDTA tüp, bukkal swap)

ANKRD11, AP1S2, ARX, ATRX, AUTS2, AVPR1A, BDNF, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP2, CNTNAP5, CREBBP, DHCR7, DLGAP2, DMD, DOCK4, DPP10, DPP6, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GABRG1, GRIN2B, HOXA1, HPRT1, IMMP2L, KATNAL2, KCTD13, KDM5C, KIRREL3, KLHL3, L1CAM, LAMC3, MBD5, MECP2, MED12, MEF2C, MET, MID1, NEGR1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NTNG1, OPHN1, PAFAH1B1, PCDH19, PCDH9, PDE10A, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RBFOX1, RELN, RPL10, SATB2, SCN1A, SCN2A, SHANK2, SHANK3, SLC6A4, SLC9A6, SLC9A9, SMC1A, SMG6, SNRPN, SOX5, SPAST, ST7, TCF4, TSC1, TSC2, UBE3A, VPS13B, ZEB2, ZNF804A

 

Epilepsy (Comprehensive NGS panel) (Test yöntemi: NGS, Test sonuçlanması: 30 gün, Numune türü: EDTA tüp, bukkal swap)

ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, ASAH1, CACNA1H, CACNB4, CDKL5, CHRNA2, CHRNA4, CHRNB2, CLCN2, CNTNAP2, CPA6, CPT2, CSTB, DRD2, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GLDC, GOSR2, GRIN2A, GRIN2B, JRK, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCTD7, LGI1, MAPK10, MBD5, MECP2, MEF2C, MFSD8, MTHFR, NEDD4L, NEU1, NHLRC1, NRXN1, PCDH19, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, RBFOX1, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SGCE, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC6A8, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, TBC1D24, TBCE, TCF4, TPP1, TREX1, TSC1, TSC2, UBE3A, WWOX, ZEB2

 

Epilepsy, febrile seizures, absences (expanded panel) (Test yöntemi: NGS, Test sonuçlanması: 30 gün, Numune türü: EDTA tüp)

ALDH7A1, CACNA1A, CACNA1H, CACNB4, CASR, CHRNA2, CHRNA4, CHRNB2, CLCN2, CSTB, EFHC1, ELP, EPM2A, GABRA1, GABRB3, GABRD, GABRG2, GPR98, GRIN2A, GRIN2B, KCNMA1, KCNQ2, KCNQ3, KCTD7, MBD5, NHLRC1, PCDH19, PRICKLE1, PRICKLE2, SCARB2, SCN1A, SCN1B, SCN2A, SCN9A, SLC2A1, TBC1D24

 

Epileptic Encephalopathies (panel) (Test yöntemi: NGS, Test sonuçlanması: 30 gün, Numune türü: EDTA tüp)

ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2

 

Parkinsons Disease (Extended panel) (Test yöntemi: NGS, Test sonuçlanması: 30 gün, Numune türü: EDTA tüp)

ATP13A2, ATP1A3, ATP6AP2, DCTN1, DNAJC6, FBXO7, FTL, FUS, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PINK1, PLA2G6, PRKRA, SLC30A10, SLC6A3, SNCA, SNCB, SPR, TAF1, TH, UCHL1, VPS35

 

Parkinsons Disease (Pannello) (Test yöntemi: NGS, Test sonuçlanması: 20 gün, Numune türü: EDTA tüp)

EIF4G1, GBA, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PINK1, SNCA, UCHL1, VPS35