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Presented here are a wide range of neurological disorders and symptoms, all related to the central nervous system and brain function. Symptoms that may occur during the course of these disorders include malfunction of the motor system, both voluntary and involuntary movement, as well as cognitive function and memory impairment. Genetic testing can play a crucial role in identifying specific neurogenetic disorders, aiding in diagnosis and treatment.
Many disorders present themselves in childhood, such as subtypes of Ataxia and Epilepsies, while others, like Alzheimer‘s disease, show increased prevalence with age and are related to the progressive degeneration of brain function.
Some diseases can be caused by single gene defects, while others are more complex. Early identification of individuals at risk for neurological disorders 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 notably increased with the advent of molecular approaches.
Next-generation DNA sequencing techniques have revolutionized genetic testing by enabling the examination of a large number of possible disease genes in a single reaction, which was previously impossible. This advancement has led to the rapid identification of genes involved in Mendelian disorders, facilitating a precise diagnosis for many neurological disorders. Therefore, genetic testing can be considered in the early stages of the diagnostic procedure.
Individuals presenting with symptoms of neurological disorders may benefit from genetic testing, especially if they have a family history of neurogenetic disorders. Additionally, individuals without a family history or those with sporadic presentations of symptoms associated with specific neurological disorders might also consider genetic testing to better understand their condition.
We provide comprehensive genetic testing and syndrome-specific panel testing for neurological disorders. This testing can yield a molecular genetic diagnosis of neurogenetic disorders that may be observed or predicted in you or a family member. Our genetic panels are meticulously designed to address various categories of neurological disorders, including Neurodegenerative diseases, Neurocutaneous conditions, Movement disorders, and Epilepsy.
We provide comprehensive genetic testing and syndrome-specific panel testing for neurological disorders. This testing can yield a molecular genetic diagnosis of neurogenetic disorders that may be observed or predicted in you or a family member. Our genetic panels are meticulously designed to address various categories of neurological disorders, including Neurodegenerative diseases, Neurocutaneous conditions, 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