Neurological Disorders Genetic Tests

OVERVIEW

The neurological disorders 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.

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.

IMPORTANCE OF GETTING TESTED

If you or a family member show a symptom of a neurological disorder, identifying the cause can help to take actions to improve the outcome of the disorder. Additionally, family members can be informed and encouraged to also get tested. Our genetic counsellors can provide medical advice.

You had unexplained seizures

You feel numbness
in your feet and/or hands

You or a family member
show memory loss

POSSIBLE OUTCOMES OF THE TEST

A molecular genetic diagnostic report outlining the results of the sequencing analysis is provided. Changes in DNA sequences (variants) can be detrimental and lead to the development of a cardiac or aortic disorder, including asymptomatic disorders that develop later in life. We will report pathogenic and likely pathogenic variants as well as variants of unknown significance.
Pathogenic and likely pathogenic variants mean the genetic cause of the observed symptoms has been identified and may help determine the right treatment and management plan.
Variants of unknown significance means there was not enough evidence to classify the variant as either pathogenic or neutral. Annual variant reclassification and testing family members is recommended.
It is important to note that a negative result does not guarantee the absence of a disorder or that the disorder does not have a genetic cause. Genetic testing is an evolving field and may not detect all variants or there may not currently be enough evidence to classify all variants that lead to an inherited disease.

Download Positive Report

Download Negative Report

MEDICAL GENETIC COUNSELLING

We provide expert medical genetic counselling as part of a genetic testing journey. Genetic counselling is a process of communication that supports patients and their relatives before and after genetic testing. It is educational, impartial and nondirective. Prior to any genetic test, genetic counsellors will obtain a detailed family history, explain the method of testing that will be used, its risks and benefits, the limitations of the diagnosis and the implications of making a genetic diagnosis (Elliott and Friedman, 2018, Nat Rev Genet 19:735).

Upon receiving the genetic test results, genetic counselling can help the specialist physician and the patient to interpret them. They can be advised of the consequences of the results including the probability of developing the genetic disorder or passing it on to children, as well as ways to prevent, avoid or reduce these risks (Yang and Kim, 2018, Ann Lab Med 38:291). Our goal of counselling is to provide the patient with greater knowledge and thus, a better understanding of the results and the ability to make a more informed decision.

OUR TESTS

ALZHEIMER‘S DISEASE, EARLY-ONSET

Genes: APP, PSEN1, PSEN2

ALZHEIMER‘S DISEASE, LATE-ONSET

Genes: APOE

AMYLOIDOSIS

Genes: TTR

ATAXIAS

Genes: ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATG5, ATM, ATP1A3, ATP8A2, ATXN10, BTD, CA8, CACNA1A, CACNA1G, CACNB4, CAPN1, CC2D2A, CCDC88C, CEP290, CEP41, CHP1, CLCN2, CLN5, CLN6, COA7, COQ8A, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DAB1, DARS2, DLAT, DNAJC19, DNAJC5, DNMT1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, FAT1, FAT2, FGF14, FLVCR1, GALC, GBA, GBA2, GCLC, GDAP2, GJB1, GJC2, GOSR2, GRID2, GRM1, INPP5E, ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0586, KIF1C, KIF26B, KIF7, MARS2, MME, MRE11, MTPAP, NEU1, NKX6-2, NPC1, NPC2, NPHP1, OFD1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PDHX, PDYN, PEX10, PEX2, PIK3R5, PLA2G6, PLD3, PMPCA, PNKP, PNPLA6, POC1B, POLG, POLR3A, PRKCG, PRNP, PUM1, RNF216, RPGRIP1L, RUBCN, SACS, SCN2A, SCYL1, SETX, SIL1, SLC17A5, SLC1A3, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRPC3, TTBK2, TTC21B, TTPA, UBA5, UBR4, VAMP1, VLDLR, VPS13D, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZFYVE26, ZNF423

ATAXIAS, EPISODIC

Genes: CACNA1A, CACNB4, KCNA1, SCN2A, SLC1A3, UBR4

ATAXIAS, FRIEDREICH (FRDA1)

Genes: FXN

ATAXIAS, SPASTIC core panel

Genes: AFG3L2, KIF1C, MTPAP, SACS, SPG7, VAMP1

ATAXIAS, SPASTIC extended panel

Genes: AFG3L2, CAPN1, CHP1, GBA2, GJC2, KIF1C, MARS2, MTPAP, NKX6-2, POLR3A, SACS, SPG7, VAMP1, ZFYVE26

ATAXIAS, SYNDROMIC

Genes: ABCB7, ABHD12, ADGRG1, AFG3L2, AHI1, AMACR, ARL13B, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CLCN2, CLN5, CLN6, COQ8A, CP, CPLANE1, CSPP1, CYP27A1, DARS2, DLAT, DNAJC19, DNMT1, FLVCR1, GALC, GBA, GBA2, GJB1, GOSR2, INPP5E, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NPC1, NPC2, NPHP1, OFD1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PEX10, PEX2, PLA2G6, PNPLA6, POC1B, POLG, POLR3A, RPGRIP1L, SACS, SIL1, SLC17A5, SPG7, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, VAMP1, VLDLR, WFS1, ZNF423

AUTOSOMAL DOMINANT SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

Genes: ABCB7, ADGRG1, AFG3L2, ATP1A3, CACNA1A, CACNA1G, CACNB4, CCDC88C, DAB1, DNAJC5, DNMT1, EEF2, ELOVL4, ELOVL5, FGF14, GBA2, GJB1, ITPR1, KCNA1, KCNC3, KCND3, MME, PDYN, POLG, PRKCG, PRNP, PUM1, SCN2A, SLC1A3, SPTBN2, SYT14, TGM6, TMEM240, TRPC3, TTBK2, VAMP1

AUTOSOMAL RECESSIVE SPINOCEREBELLAR AND OTHER HEREDITARY ATAXIAS

Genes: ABCB7, ADGRG1, AFG3L2, AHI1, AMACR, ANO10, APTX, ARL13B, ARSA, ATCAY, ATG5, ATP8A2, ATXN10, BTD, CA8, CAPN1, CC2D2A, CEP290, CEP41, CHP1, CLCN2, CLN5, COA7, COQ8A, CP, CPLANE1, CSPP1, CWF19L1, CYP27A1, DARS2, DLAT, DNAJC19, DNAJC5, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FLVCR1, GALC, GBA, GBA2, GCLC, GDAP2, GOSR2, GRID2, GRM1, INPP5E, KCNJ10, KIAA0586, KIF1C, KIF7, MARS2, MRE11, MTPAP, NEU1, NPC1, NPC2, NPHP1, OPA1, OPA3, PANK2, PDE10A, PDE6D, PDHX, PEX10, PEX2, PIK3R5, PMPCA, PNKP, PNPLA6, POC1B, POLG, RNF216, RPGRIP1L, RUBCN, SACS, SCYL1, SETX, SIL1, SLC17A5, SLC9A1, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TPP1, TTC21B, TTPA, UBA5, VLDLR, VPS13D, VWA3B, WDR81, WFS1, WWOX, XRCC1, ZNF423

BRAIN MALFORMATIONS PONTOCEREBELLAR HYPOPLASIA PANEL

Genes: AMPD2, CASK, CHMP1A, CLP1, COASY, EXOSC3, EXOSC8, EXOSC9, PPIL1, RARS2, SEPSECS, SLC25A46, TBC1D23, TOE1, TSEN15, TSEN2, TSEN34, TSEN54, VPS51, VPS53, VRK1

BRAIN MALFORMATIONS TUBULINOPATHIES PANEL

Genes: TBCD, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1

BRAIN MALFORMATIONS LISSENCEPHALY PANEL

Genes: ACTB, ACTG1, ARX, CDK5, CEP85L, CRADD, DCX, KATNB1, LAMB1, MACF1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A, TUBB2B, TUBG1

CADASIL SYNDROME

Genes: HTRA1, NOTCH3

CHARCOT-MARIE-TOOTH DISEASE

Genes: GDAP1, GJB1, HINT1, MFN2, MPZ, PMP22, SH3TC2

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1 & 2

Genes: ATL1, DNM2, EGR2, GARS, GDAP1, HSPB1, IGHMBP2, KIF1B, LITAF, MFN2, MPZ, NEFL, NGF, PMP22, RAB7A

CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A

Genes: PMP22

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2, AXONAL, AUTOSOMAL DOMINANT

Genes: AARS, DYNC1H1, GDAP1, HSPB1, HSPB8, LRSAM1, MFN2, MPZ

CHOREATIC MOVEMENT DISORDERS core panel

Genes: ATXN1, ATXN2, ATXN3, ATXN7, TBP, ATN1

CHOREATIC MOVEMENT DISORDERS extended panel

Genes: ADCY5, ARSA, ATM, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, FRRS1L, FTL, GM2A, GNAO1, KCNA1, NKX2-1, PDE10A, PRNP, RNF216, SETX, TBP, VPS13A, XK

CREUTZFELDT–JAKOB DISEASE

Genes: PRNP

DENTATORUBRAL PALLIDOLUYSIAN ATROPHY

Genes: ATN1

DRAVET SYNDROME

Genes: GABRD, GABRG2, PCDH19, SCN1A, SCN1B, SCN2A, SCN9A

EPILEPSY

Genes: AARS, ACTL6B, ADAM22, ADGRV1, ADRA2B, ALDH7A1, ALG13, AP3B2, ARHGEF15, ARHGEF9, ARV1, ARX, ATP1A2, BRAT1, CACNA1A, CACNA1E, CACNA1H, CACNB4, CAD, CASR, CDKL5, CERS1, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN2, CLCN4, CNPY3, CNTN2, CPA6, CPLX1, CSTB, CYFIP2, DCX, DENND5A, DEPDC5, DNM1, DOCK7, DYRK1A, EEF1A2, EFHC1, EPM2A, FGF12, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRD, GABRG2, GAL, GLS, GLUL, GNAO1, GOSR2, GPHN, GRIN2A, GRIN2B, GRIN2D, GUF1, HCN1, HDAC4, HNRNPU, IQSEC2, ITPA, KCNA1, KCNA2, KCNB1, KCNC1, KCNH5, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCNT2, KCTD7, LGI1, LMNB2, MBD5, MDH2, MECP2, MEF2C, NECAP1, NEUROD2, NHLRC1, NPRL2, NPRL3, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PLCB1, PLPBP, PNKP, PNPO, POLG, PPP3CA, PRDM8, PRICKLE1, PRICKLE2, PRRT2, RANBP2, RANGAP1, RELN, RHOBTB2, RNF13, ROGDI, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SPTAN1, SRPX2, ST3GAL3, STX1B, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG

EPILEPSY, ABSENCE

Genes: CACNA1H, CLCN2, EFHC1, GABRA1, GABRA5, GABRB3, GABRG2, SLC2A1, SLC6A1

EPILEPSY, BENIGN FAMILIAL INFANTILE SEIZURES

Genes: CHRNA2, KCNQ2, KCNQ3, PRRT2, SCN2A, SCN8A

EPILEPSY, EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY

Genes: AARS, ACTL6B, ADAM22, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CACNA1E, CAD, CDKL5, CHD2, CNPY3, CPLX1, CYFIP2, DCX, DENND5A, DNM1, DOCK7, EEF1A2, FGF12, FOXG1, FRRS1L, GABBR2, GABRA1, GABRA2, GABRA5, GABRB1, GABRB2, GABRB3, GABRG2, GLS, GNAO1, GPHN, GRIN2B, GRIN2D, GUF1, HCN1, HNRNPU, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, KCNT2, MDH2, MECP2, NECAP1, NEUROD2, NTRK2, PARS2, PCDH19, PHACTR1, PIGA, PIGB, PIGP, PIGQ, PLCB1, PNKP, POLG, PPP3CA, RANGAP1, RHOBTB2, RNF13, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG

EPILEPSY, FEMALE RESTRICTED, WITH INTELLECTUAL DISABILITY

Genes: PCDH19

EPILEPSY, FOCAL

Genes: CHRNA2, CHRNA4, CHRNB2, CPA6, DEPDC5, GAL, GRIN2A, KCNA1, KCNT1, LGI1, NPRL2, NPRL3, RELN, SCN3A

EPILEPSY, GENERALIZED JUVENILE MYOCLONIC

Genes: ADRA2B, CACNB4, CASR, CERS1, CLCN2, CNTN2, CSTB, EFHC1, EPM2A, GABRA1, GABRD, GOSR2, KCNC1, KCNMA1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, PRICKLE2, SCARB2, SLC6A1, TBC1D24

EPILEPSY, GENERALIZED WITH FEBRILE SEIZURES PLUS

Genes: ADGRV1, CPA6, GABRD, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN9A, STX1B

EPILEPSY, PYRIDOXINE-DEPENDENT

Genes: ALDH7A1

EPILEPSY, THERAPY RELEVANT

Genes: ALDH7A1, KCNQ2, PLPBP, PNPO, PRRT2, SCN1A, SLC2A1

FRAGILE X TREMOR/ATAXIA SYNDROME

Genes: FMR1

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE

Genes: PRNP

GLUCOSE TRANSPORTER TYPE 1 DEFICIENCY SYNDROME

Genes: SLC2A1

HOLOPROSENCEPHALY

Genes: To be confirmed

HUNTINGTON DISEASE

Genes: HTT

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

Genes: ARHGEF9, ATAD1, GLRA1, GLRB, SLC6A5

Leukoencephalopathy with vanishing white matter

Genes: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5

MIGRAINE, FAMILIAL HEMIPLEGIC

Genes: ATP1A2, CACNA1A, SCN1A

NEUROPATHIES, HEREDITARY

Genes: AARS, ABHD12, AIFM1, ARHGEF10, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CCT5, COX6A1, CTDP1, DCTN1, DGAT2, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HARS, HINT1, HK1, HOXD10, HSPB1, HSPB3, HSPB8, IGHMBP2, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MCM3AP, MED25, MFN2, MME, MORC2, MPV17, MPZ, MTMR2, MYH14, NDRG1, NEFH, NEFL, NGF, NTRK1, OPA1, PDK3, PLEKHG5, PMP22, POLG, PRDM12, PRPS1, PRX, RAB7A, REEP1, RETREG1, SACS, SBF1, SBF2, SCN10A, SCN11A, SCN9A, SEPT9, SH3TC2, SIGMAR1, SLC12A6, SLC25A46, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, SURF1, SYT2, TDP1, TFG, TRIM2, TRPV4, TTR, VCP, WNK1, YARS

NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES

Genes: PMP22

POLYMICROGYRIA

Genes: To be confirmed

SMALL FIBER NEUROPATHY

Genes: SCN10A, SCN11A, SCN9A

SPASTIC PARAPLEGIA

Genes: AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARL6IP1, ATL1, ATP13A2, B4GALNT1, BSCL2, C12orf65, C19orf12, CAPN1, CPT1C, CYP2U1, CYP7B1, DDHD1, DDHD2, DSTYK, ENTPD1, ERLIN1, ERLIN2, FA2H, FARS2, GBA2, GJC2, HPDL, HSPD1, IBA57, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, MAG, NIPA1, NKX6-2, NT5C2, PCYT2, PLP1, PNPLA6, REEP1, REEP2, RTN2, SELENOI, SLC16A2, SLC33A1, SPART, SPAST, SPG11, SPG21, SPG7, TECPR2, TFG, TUBB4A, UBAP1, UCHL1, VPS37A, WASHC5, ZFYVE26, ZFYVE27

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