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
Neurological and psychiatric (Test yöntemi: WES, Test sonuçlanması: 30 gün, Numune türü: EDTA tüp)
Biomnis; Lib Twist, Seq Illumina 2x150 Novaseq 6000, Exome with accreditation ISO1589, CE-IVD pipeline
Neurodevelopmental and Behavioural (Test yöntemi: WES, Test sonuçlanması: 30 gün, Numune türü: EDTA tüp) Biomnis
Biomnis; Lib Twist, Seq Illumina 2x150 Novaseq 6000, Exome with accreditation ISO1589, CE-IVD pipeline