Neurological Disease Genetic Panels
Neurological genetic tests investigate genetic changes associated with diseases affecting the brain and nervous system. They can help evaluate the genetic causes of Alzheimer's disease, Parkinson's disease, epilepsy and neurodevelopmental disorders. The information obtained can support the diagnostic process and, in suitable patients, contribute to follow-up, treatment and family counseling.
Who is it suitable for?
- With a specialist physician's evaluation, genetic testing may be considered in the following people:
- People with a hereditary neurological disease or a known genetic change in their family.
- People with early-onset Alzheimer's or Parkinson's disease, or with more than one affected person in the family.
- People with epilepsy of suspected genetic origin or with unexplained seizures.
- Children for whom genetic investigation is recommended because of developmental delay, intellectual disability or autism spectrum disorder. As a first step, exome sequencing and/or microarray, as well as fragile X analysis, are recommended; gene panels are not a substitute for these, and a negative panel result does not rule out a genetic cause.
- People whose neurological symptoms remain unexplained despite clinical evaluations.
The appropriate test is selected by a neurology and/or medical genetics specialist according to the person's symptoms and family history. The detection of a genetic predisposition does not necessarily mean that the disease will develop.
During working hours, you can quickly apply with a simple blood test by visiting our Nicosia or Kyrenia laboratory branches.
Neurological Disease Genetic Panels
Alzheimer cardiovascular SNPs (single nucleotide polymorphisms) panel(Test method: Sanger sequencing, Turnaround time: 20 days, Sample type: EDTA tube)
- ACT, APOE, IL-1B, IL-10, VEGF, HMGCR
Alzheimer Disease (expanded panel) panel(Test method: NGS, Turnaround time: 20 days, Sample type: EDTA tube)
- APOE, APP, PRNP, PSEN1, PSEN2, SORL1, TREM2
Alzheimer Disease Early-Onset Autosomal dominant (PSEN1, PSEN2)(Test method: NGS, Turnaround time: 20 days, Sample type: EDTA tube)
- PSEN2, PSEN1
AutismScreen® 93 genes screening associated with autism(Test method: NGS, Turnaround time: 30 days, Sample type: EDTA tube, buccal swab)
- This panel does not detect FMR1 CGG repeat expansion; a separate repeat analysis should be performed for fragile X.
- 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 method: NGS, Turnaround time: 30 days, Sample type: EDTA tube, buccal swab)
- CSTB promoter repeat expansion (EPM1) cannot be detected with this panel; a separate repeat analysis is needed if suspected.
- 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 method: NGS, Turnaround time: 30 days, Sample type: EDTA tube)
- CSTB promoter repeat expansion (EPM1) cannot be detected with this panel; a separate repeat analysis is needed if suspected.
- 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 method: NGS, Turnaround time: 30 days, Sample type: EDTA tube)
- 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 method: NGS, Turnaround time: 30 days, Sample type: EDTA tube)
- 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 (Panel)(Test method: NGS, Turnaround time: 20 days, Sample type: EDTA tube)
- EIF4G1, GBA, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PINK1, SNCA, UCHL1, VPS35
Neurological and psychiatric(Test method: WES, Turnaround time: 30 days, Sample type: EDTA tube)
- Biomnis; Lib Twist, Seq Illumina 2x150 Novaseq 6000, Exome with accreditation ISO 15189, CE-IVD pipeline
Neurodevelopmental and Behavioural(Test method: WES, Turnaround time: 30 days, Sample type: EDTA tube)
- Biomnis; Lib Twist, Seq Illumina 2x150 Novaseq 6000, Exome with accreditation ISO 15189, CE-IVD pipeline