Genetic testing is increasingly vital in the field of neurology, where many conditions such as epilepsy and dementia have a genetic origin. Identifying the genetic basis of a neurological disorder can provide diagnostic clarity, especially in complex or early-onset cases, and can help differentiate between overlapping clinical syndromes. A confirmed genetic diagnosis can guide treatment decisions, inform prognosis, and determine eligibility for targeted therapies or clinical trials. Additionally, genetic testing enables early identification of at-risk family members and supports reproductive decision-making. As precision medicine continues to evolve, genetic insights are becoming indispensable for delivering more accurate, individualised, and effective care for patients with neurological conditions.

Genetic testing for neurological conditions can help you, the healthcare practitioner, to:

Identify patients who are at risk of developing neurological conditions, enabling them to take preventative measures where possible.
Closely monitor patients with a known neurological condition predisposition thereby facilitating early detection and treatment, which is known to have a positive impact on patient outcomes.
Identify and access targeted therapies that may benefit your patient.
Identify family members who may also be a risk, roll out cascade testing, and begin taking preventative measures where appropriate.
Direct your patients towards helpful patient resources and support groups.
Assist your patients with family planning.

Neurology Gene Panel Tests available at Genseq

Genseq offer 31 neurology gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis.

Test Code

Test Name

No. of Genes

Panel Content

NUE1002

Acute Rhabdomyolysis Panel

ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, CACNA1S, CAV3, CHKB, COQ4, COQ8A, CPT2, DGUOK, DMD, DYSF, ENO3, ETFA, ETFB, ETFDH, FDX2, FKRP, FLAD1, GAA, GBE1, GMPPB, GYG1, GYS1, HADHA, HADHB, ISCU, LAMP2, LDHA, LPIN1, MLIP, MT-CO1, MT-CO2, OBSCN, PFKM, PGAM2, PGK1, PGM1, PHKA1, POLG, POLG2, PYGM, RYR1, SCN4A, SGCA, SIL1, SLC22A5, TANGO2, TK2

NUE1003

Adult-onset Dystonia, Chorea or related movement disorder Panel

ACTB, AFG3L2, ANO3, APTX, ARSA, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, C19orf12, CACNA1A, CHMP2B, CP, CSF1R, CYP27A1, DCAF17, DCTN1, DNAJC6, FBXO7, FTL, GBA1, GCH1, GFAP, GNAL, GRN, GTPBP2, HPCA, KMT2B, LRRK2, LYST, MAPT, MYORG, NKX2-1, PANK2, PARK7, PDGFB, PDGFRB, PINK1, PLA2G6, PNKD, PPP2R5D, PRKN, PRKRA, PRNP, PRRT2, RAB39B, RNF216, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SNCA, SPG11, SPR, SYNJ1, TBK1, THAP1, TIMM8A, TOR1A, TUBB4A, VPS13A, VPS16, VPS35, WDR45, XPR1

NUE1004

Adult-onset Hereditary Spastic Paraplegia (HSP) Panel

ABCD1, ADAR, ALDH18A1, AP5Z1, ATL1, ATP13A2, B4GALNT1, BICD2, BSCL2, C19orf12, CAPN1, COQ4, CPT1C, CYP27A1, CYP7B1, DARS1, DDHD1, DDHD2, ERLIN2, FA2H, FBXO7, FXN, GALC, GBA2, GBE1, GCH1, GJA1, KCNA2, KIF1A, KIF1C, KIF5A, NIPA1, OPA3, PCYT2, PLP1, PNPLA6, POLR3A, PRNP, PSEN1, REEP1, RTN2, SACS, SLC25A15, SPAST, SPG11, SPG21, SPG7, SPTAN1, TUBB4A, UBAP1, UCHL1, WASHC5, ZFYVE26

NUE1005

Adult Onset Leukodystrophy Panel

AARS1, AARS2, ABCD1, ALDH3A2, APP, ARSA, AUH, CLCN2, COL4A1, COL4A2, CSF1R, CTSA, CYP27A1, DARS1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS1, GALC, GBE1, GCDH, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GSN, HEPACAM, HEXA, HTRA1, ITM2B, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MCOLN1, MTHFR, NOTCH3, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PRNP, PSAP, PSEN1, PTEN, RNASEH2A, RNASEH2B, RNASEH2C, RNF216, SAMHD1, SNORD118, SPG11, SPG21, TREM2, TREX1, TTR, TUBB4A, TYMP, TYROBP, ZFYVE26

NUE1006

Adult-onset Neurodegenerative Disorder Panel

117

ABCD1, AFG3L2, ALS2, ANG, ANXA11, APP, ARSA, ATP13A2, ATP1A3, ATP7B, AUH, C19orf12, CACNA1G, CCNF, CHCHD10, CHCHD2, CHMP2B, CLCN2, CLN6, COASY, COL4A1, COL4A2, CP, CSF1R, CTSA, CTSF, CYP27A1, CYP7B1, DARS2, DCTN1, DNAJB2, DNAJC5, DNAJC6, DNAJC7, DNMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, EPM2A, ERBB4, FBXO7, FTL, FUS, GBA1, GBE1, GCH1, GFAP, GLA, GRN, GSN, HEXA, HEXB, HNRNPA1, HTRA1, ITM2B, KCNC3, KCND3, KIF5A, LAMB1, LRRK2, LYST, MAPT, MYORG, NAA60, NEK1, NHLRC1, NOTCH3, NPC1, NPC2, OPTN, PANK2, PARK7, PDGFB, PDGFRB, PFN1, PINK1, PLA2G6, PRKN, PRNP, PSAP, PSEN1, PSEN2, RAB32, RNF216, SETX, SLC20A2, SNCA, SOD1, SPAST, SPG11, SPG21, SPG7, SQSTM1, SS18L1, STUB1, SYNJ1, TARDBP, TBK1, TMEM240, TREM2, TREX1, TTC19, TTR, TUBA4A, TYROBP, UBQLN2, VAPB, VCP, VPS13A, VPS35, VRK1, WDR45, XK, XPR1

NUE1007

Arthrogryposis Panel

158

Download Panel Content

NUE1008

Cerebral Malformation Panel

126

ACTB, ACTG1, ADGRG1, AKT1, AKT3, APC2, ARF1, ARFGEF2, ARX, ASPM, ATP1A2, ATP1A3, B3GALNT2, B4GAT1, CASK, CASP2, CCND2, CDH2, CDK13, CDON, CEP85L, CNOT1, COL3A1, COL4A1, COL4A2, CRADD, CRPPA, CSNK2A1, CTNNA2, DAG1, DCHS1, DCX, DEPDC5, DHCR7, DPYSL5, DYNC1H1, EML1, FGF8, FGFR1, FKRP, FKTN, FLNA, GLI2, GPSM2, GRIN1, GRIN2B, H3-3A, HECTD4, KATNB1, KIF2A, KIF5C, KIFBP, KMT2D, LAMA2, LAMB1, LAMC3, LARGE1, MACF1, MAP1B, MAPK8IP3, MAX, MN1, MTOR, NDE1, NEDD4L, NPRL2, NPRL3, NSRP1, OCLN, OSGEP, PAFAH1B1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PI4KA, PIDD1, PIK3CA, PIK3R2, POMGNT1, POMGNT2, POMT1, POMT2, PPP1R12A, PTCH1, PTEN, RAB18, RAB3GAP1, RAB3GAP2, RAC3, RAD21, RELN, RTTN, RXYLT1, SCN3A, SHH, SIX3, SLC35A2, SMC1A, SMO, SNAP29, SOX11, STAG2, TBC1D32, TGIF1, TMX2, TP73, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP2, VLDLR, WDR62, ZIC2

NUE1009

Cerebral Vascular Malformations Panel

ACTA2, ACVRL1, ANGPTL6, CCM2, COL3A1, COL5A1, ENG, GUCY1A1, KRIT1, PDCD10, RASA1, RNF213, SAMHD1, SLC2A10, SMAD4, YY1AP1

NUE1015

Childhood Onset Dystonia, Chorea or Related Movement Disorder Panel

190

Download Panel Content

NUE1016

Childhood Onset Hereditary Spastic Paraplegia Panel

113

ABCD1, ABHD16A, ACBD6, ACER3, ADAR, AFG2B, AFG3L2, AIMP1, ALDH18A1, ALDH3A2, ALS2, AMFR, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BCAS3, BORCS8, BSCL2, C19orf12, CAPN1, CLDN11, CPT1C, CTNNB1, CYP27A1, CYP2U1, CYP7B1, DARS1, DDHD1, DDHD2, DDX3X, ELOVL1, ENTPD1, ERLIN1, ERLIN2, FA2H, FAR1, FARS2, FICD, FXN, GALC, GBA2, GCH1, GJA1, GLRX5, GPT2, HACE1, HECTD4, HIKESHI, HMBS, HPDL, HSPD1, IFIH1, KCNA2, KDM5C, KIDINS220, KIF1A, KIF1C, KIF5A, KPNA3, L1CAM, LETM1, MAG, MAPK8IP3, MTRFR, NDUFA12, NIPA1, NKX6-2, NSRP1, NT5C2, OPA3, PCYT2, PLP1, PNPLA6, POLR3A, PPFIBP1, RAB3GAP2, REEP1, REEP2, RETREG1, RINT1, RNASEH2B, RNF170, RNU7-1, RTN2, SACS, SERAC1, SLC16A2, SLC1A4, SLC25A15, SLC2A1, SPART, SPAST, SPG11, SPG21, SPG7, SPTAN1, STN1, TAF8, TECPR2, TFG, TMEM63C, TUBB4A, UBAP1, UCHL1, WDR45B, ZFYVE26

NUE1017

Childhood Onset Leukodystrophy Panel

1906

Download Panel Content

NUE1010

Comprehensive Epilepsy Panel

511

Download Panel Content

NUE1001

Comprehensive Neurology Panel

2407

Download Panel Content

NUE1013

Congenital Muscular Dystrophy Panel

B3GALNT2, B4GAT1, BET1, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DOLK, DPM2, DPM3, DTNA, EMD, FHL1, FKRP, FKTN, GGPS1, GMPPB, GOLGA2, GOSR2, HNRNPA2B1, INPP5K, ITGA7, JAG2, LAMA2, LARGE1, LMNA, MICU1, MSTO1, PLEC, POGLUT1, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PYROXD1, RXYLT1, SELENON, SIL1, SYNE1, TRAPPC11

NUE1011

Congenital Myaesthenic Syndromes Panel

AGRN, ALG14, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LRP4, MUSK, MYO9A, PLEC, RAPSN, SCN4A, SLC18A3, SLC25A1, SLC5A7, SYT2, TOR1AIP1, VAMP1

NUE1012

Congenital Myopathy Panel

ACTA1, ACTN2, ADSS1, ASCC1, ASCC3, BIN1, CACNA1S, CFL2, COL12A1, COL13A1, COL25A1, COL6A1, COL6A2, COL6A3, COX6A2, DNAJB4, DNM2, DOK7, ECEL1, EPG5, FKBP14, FXR1, GBE1, GFER, HACD1, HNRNPA2B1, KBTBD13, KLHL40, KLHL41, KY, LETM1, LMNA, LMOD3, MAP3K20, MEGF10, MICU1, MLIP, MTM1, MYBPC1, MYH2, MYH3, MYH7, MYL1, MYL2, MYMK, MYO18B, MYOD1, MYPN, NEB, ORAI1, PAX7, PIEZO2, PYROXD1, RYR1, RYR3, SCN4A, SELENON, SLC25A4, SPEG, SPTBN4, STAC3, STIM1, TNNC2, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRDN, TRIP4, TTN, UNC45B, VMA21, ZC4H2

NUE1014

Dementia Panel

ABCA7, APOE, APP, CHMP2B, CSF1R, FUS, GRN, MAPT, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY, PRNP, PSEN1, PSEN2, RNF216, SIGMAR1, SNCA, SORL1, TARDBP, TREM2, TUBA4A, UBE3A, UBQLN2, VCP

NUE1018

Early-onset or Syndromic Epilepsy Panel

600

Download Panel Content

NUE1019

Hereditary Ataxia and Cerebellar Anomalies - Childhood Onset Panel

363

Download Panel Content

NUE1020

Hereditary Ataxia and Cerebellar Anomalies Panel - Onset in Adulthood

Download Panel Content

NUE1021

Hereditary Neuropathy or Pain Disorder Panel

225

Download Panel Content

NUE1022

Holoprosencephaly Panel

CDON, CNOT1, DHCR7, FGF8, FGFR1, GLI2, KMT2D, PTCH1, RAD21, SHH, SIX3, SMC1A, STAG2, TGIF1, ZIC2

NUE1023

Hydrocephalus Panel

AKT3, AP1S2, ARSB, B3GALNT2, B3GLCT, B4GAT1, BLTP1, BUB1B, CC2D2A, CCDC88C, CCND2, CENPF, CEP83, COL4A1, CRB2, CRPPA, DAG1, DENND5A, DHCR24, EEF2, EML1, FAM20C, FANCB, FGFR1, FGFR2, FGFR3, FKRP, FKTN, FLVCR2, GFAP, GLI3, GPSM2, GUSB, HYLS1, IDS, KIAA0586, KIDINS220, L1CAM, LAMB1, LARGE1, MAN2B1, MPDZ, NF1, NSD1, OSTM1, PIK3CA, PIK3R2, PLG, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R5D, PTCH1, PTEN, RNF125, RPS6KA3, RXYLT1, SKI, SMARCC1, SNX10, STRADA, SUFU, SUMF1, TBC1D32, TCF12, TCIRG1, TNFRSF11A, TRIM71, TWIST1, USP9X, WASHC5, ZBTB20, ZIC2, ZIC3

NUE1023

Intellectual Disability Panel

1459

Download Panel Content

NUE1025

Limb Girdle Muscular Dystrophies, Myofibrillar Myopathies and Distal Myopathies Panel

ABHD5, ACADVL, ACTN2, ANO5, BAG3, BVES, CAPN3, CAV3, COL6A1, COL6A2, COL6A3, CPT2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DOK7, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GMPPB, GNE, HMGCR, HNRNPDL, LAMA2, LAMP2, LMNA, LPIN1, MTM1, MYH7, MYOT, ORAI1, PFKM, PHKA1, PLEC, PNPLA2, POMGNT1, POMGNT2, POMT1, POMT2, POPDC3, PYGM, PYROXD1, RYR1, SELENON, SGCA, SGCB, SGCD, SGCG, SMCHD1, STIM1, SYNE1, SYNE2, TCAP, TNPO3, TOR1AIP1, TRAPPC11, TRIM32, TTN, VCP, VMA21

NUE1026

Macrocephaly Panel

AKT1, AKT3, ASPA, ASXL2, BRWD3, CCND2, CDKN1C, CHD8, CUL4B, DHCR24, DIS3L2, DNMT3A, EED, EIF2B5, EZH2, GFAP, GLI3, GPC3, GPSM2, GRIA3, HEPACAM, HUWE1, KDM1A, KIF7, KPTN, L1CAM, MED12, MLC1, MPDZ, NFIB, NFIX, NSD1, OFD1, PIGA, PIK3CA, PIK3R2, PTCH1, PTEN, RAB39B, RNF135, SETD2, SYN1, TMEM94, TSC1, TSC2, UPF3B, WASHC5, ZBTB20

NUE1027

Malignant Hyperthermia Panel

CACNA1S, RYR1, STAC3

NUE1028

Paroxysmal Central Nervous System Disorders Panel

ADCY5, ATAD1, ATP1A2, ATP1A3, CACNA1A, DNMT1, GLRA1, GLRB, KCNA1, KCNMA1, KCNQ2, PDE10A, PNKD, PRRT2, RHOBTB2, SCN1A, SLC1A3, SLC2A1, SLC6A5, VAMP2

NUE1029

Rare Neuromuscular Disorders Panel

226

Download Panel Content

NUE1030

Severe Microcephaly Panel