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Presented here encompass a wide range of disorders and symptoms, all related to the central nervous system and brain function. Symptoms that may occur during the course of the disorder include malfunction of the motor system, voluntary and involuntary movement, cognitive function and memory impairment.
Many disorders present themselves in childhood such as subtypes of Ataxia and Epilepsies, while others show increased prevalence with age and are related to the progressive degeneration of brain function, such as Alzheimer‘s disease.
Some diseases can be caused by single gene defects, while others are more complex. Early identification of individuals at risk can help establish the right clinical management plan. Neurological disorders are often chronic, progressive, and debilitating, with phenotypes that are genetically heterogeneous Neurogenetic disorders are prominently seen in clinical genetics practice and have increased notably with the advent of molecular approaches.
Next-generation DNA sequencing techniques have made it possible to examine a large number of possible disease genes in a single reaction, which was impossible to do with previous methods. This has resulted in the rapid identification of genes involved in Mendelian disorders, thereby making a precise diagnosis of many neurological disorders possible. Genetic testing for the same can be considered in the early stages of the diagnostic procedure.
We offer comprehensive and syndrome-specific panels testing for neurological
disorders. The test can offer a molecular genetic diagnosis of a neurological disorder
that is observed or predicted in you or a family member. The genetic panels were
designed to cover various categories of neurological diseases including
Neurodegenerative, Neurocutaneous, Movement disorders, and Epilepsy
We offer comprehensive and syndrome-specific panels testing for neurological
disorders. The test can offer a molecular genetic diagnosis of a neurological disorder
that is observed or predicted in you or a family member. The genetic panels were
designed to cover various categories of neurological diseases including
Neurodegenerative, Neurocutaneous, Movement disorders, and Epilepsy
Please reach us at contact@genatechs.com if you cannot find the test you are searching for.
Single Gene
ATP1A2, CACNA1A, PRRT2, SCN1A
ACTB, ACTG1, ADGRG1, ARX, ATP6V0A2, B3GALNT2, B4GAT1, CDK5, DCX,
DYNC1H1, FKRP, FKTN, FTO, ISPD, KATNB1, KIAA1279, KIF2A, KIF5C, LAMA2,
LAMB1, LAMC3, LARGE, NDE1, OCLN, PAFAH1B1, PHGDH, POMGNT1, POMGNT2,
POMK, POMT1, POMT2, RAB18, RAB3GAP1, RAB3GAP2, RELN, RTTN, SNAP29,
SRD5A3, TBC1D20, TMEM5, TMTC3, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B,
TUBB3, TUBB4A, TUBG1, VIPAS39, VLDLR, VPS33B, WDR62
ANKLE2, ARFGEF2, ASPM, ASXL3, ATR, ATRX, CASC5, CASK, CDC6, CDK5RAP2,
CDK6, CDKL5, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CIT, CRIPT, DIAPH1, DYRK1A, FOXG1, IER3IP1, KATNB1, KIF11, LIG4, MCPH1, MECP2, MED17, MFSD2A, MSMO1, NBN, NDE1, NHEJ1, NIN, ORC1, ORC4, ORC6, PCNT, PHC1, PLK4, PNKP, PPP1R15B, QARS, RAB18, RAB3GAP1, RAB3GAP2, RAD50, RBBP8, RTTN, SASS6, SLC25A19, SLC2A1, SLC9A6, STAMBP, STIL, TBC1D20, TCF4, TRAPPC9, TRMT10A, TSEN2, TSEN34, TSEN54, TUBGCP4, TUBGCP6, UBE3A, WDFY3, WDR62, XRCC4, ZEB2, ZNF335
ACTB, ACTG1, ADGRG1, AKT3, ARFGEF2, ARX, B3GALNT2, B4GAT1, CCND2, CDK5, COL4A1, COL4A2, DCX, DEPDC5, DYNC1H1, EMX2, ERMARD, FAT4, FIG4, FKRP, FKTN, FLNA, GMPPB, ISPD, KATNB1, KIAA1279, KIF2A, KIF5C, L1CAM, LAMB1, LARGE, MCPH1, NDE1, NEDD4L, OCLN, PAFAH1B1, PI4KA, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, RELN, RTTN, SHH, SIX3, SRPX2, TMEM5, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, WDR62
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
AMPD2, CASK, CHMP1A, CLP1, EXOSC3, EXOSC8, PCLO, RARS2, SEPSECS, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS53, VRK1
Single Gene
CDKL5, FOXG1, MECP2, MEF2C
Single Gene
Single Gene
Single Gene
Single Gene
SLC52A2 & SLC52A3
Single Gene
Single Gene
Single Gene
Single Gene
Single Gene
Neurology-Neurodegenerative
MLC1, L2HGDH, D2HGDH, MLYCD
Single Gene
Single Gene
Single Gene
AIMP1, BCAP31, C11ORF73, DARS, EGR2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC4, ERCC5, ERCC6, ERCC8, EXOSC8, FAM126A, GJC2, HSPD1, MLC1, MPZ, PLP1, POLR1C, POLR3A, POLR3B, PYCR2, RARS, SLC25A12, SLC33A1, SPTAN1, STXBP1, TBCD, TUBB4A, VPS11
Single Gene
Single Gene
Single Gene
AARS, AARS2, ABCD1, ABCD4, ACAD9, ACOX1, ACP5, ACSF3, ADAR, ADGRG1, ADSL, AGA, AGK, AIMP1, ALDH3A2, ALDH5A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMT, ANO5, AP3B1, ARSA, ARSB, ASPA, ATP13A2, ATP6V0A2, ATP7A, B3GALNT2, B4GALT1, B4GAT1, BCAP31, BCKDHA, BCKDHB, BLOC1S6, BTD, C10orf2, CAD, CAPN3, CARS2, CAV3, CBS, CD27, CD320, CHKB, CLCN2, CLN3, CLN5, CLN6, CLN8, COG1, COG4, COG5, COG6, COG7, COG8, COL12A1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, CSF1R, CTC1, CTSD, CTSF, CYP27A1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCAF8, DDC, DDOST, DES, DGUOK, DLAT, DLD, DMD, DNAJB6, DNAJC5, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EMD, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, FA2H, FAM126A, FARS2, FBXL4, FH, FHL1, FKRP, FKTN, FOLR1, FOXRED1, FUCA1, GALC, GALNS, GALT, GAN, GARS, GBE1, GCDH, GCSH, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GLDC, GM2A, GMPPB, GNPTAB, GNPTG, GNS, GPHN, GRN, GTF2H5, GUSB, HARS, HARS2, HCFC1, HEPACAM, HEXA, HGSNAT, HLCS, HMGCL, HNRNPDL, HSD17B4, HSPD1, HTRA1, HYAL1, IARS2, IDH2, IDS, IDUA, IFIH1, ISPD, ITGA7, ITK, IVD, JAM3, KARS, KCTD7, L2HGDH, LAMA2, LARGE, LARS, LARS2, LIAS, LMBRD1, LMNA, LMNB1, LYST, MAN2B1, MANBA, MARS, MARS2, MCCC1, MCCC2, MCEE, MCOLN1, MFSD8, MGAT2, MGME1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPLKIP, MPV17, MTHFR, MTR, MTRR, MUT, MYOT, NAGLU, NARS2, NDUFA1, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS8, NDUFV1, NDUFV2, NEU1, NOTCH3, NPC1, NPC2, NUBPL, OCLN, OCRL, OPA1, PABPN1, PAH, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDK3, PDP1, PDX1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGM1, PHGDH, PHYH, PLEC, PLP1, PMM2, POLG, POLR1C, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPT1, PRF1, PRPS1, PSAP, PYCR2, QARS, QDPR, RAB27A, RARS, RARS2, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RPIA, RRM2B, SAMHD1, SARS2, SCP2, SEPN1, SGCA, SGCB, SGCD, SGCG, SH2D1A, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SLC35A1, SLC35A2, SLC35C1, SLC7A7, SMCHD1, SOX10, SPG11, SRD5A3, SSR4, STT3A, STT3B, STX11, STXBP2, SUCLA2, SUCLG1, SUGCT, SUOX, SYNE1, SYNE2, TARS2, TCAP, TK2, TMEM165, TMEM43, TMEM5, TNPO3, TPP1, TRAPPC11, TREM2, TREX1, TRIM32, TTN, TUBB4A, TYMP, TYROBP, UNC13D, VARS2, XIAP, YARS, YARS2, ZFYVE26
ARSA, PSAP
Single Gene
Single Gene
Single Gene
ATP13A2, COASY, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45
POLR3A, POLR3B
Single Gene
AHI1, ARL13B, B9D1, C2CD3, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, DDX59, INPP5E, KIAA0556, KIAA0586, KIAA0753, KIF7, LAMA1, MKS1, NPHP1, OFD1, PDE6D, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423
ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1
Single Gene
Single Gene
Single Gene
Single Gene
CLN3, PPT1, TPP1
Single Gene
Single Gene
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