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.

top-banner

You had unexplained seizures

top-banner

You feel numbness
in your feet and/or hands

top-banner

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.

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.

ACCEPTED MATERIAL

1 ml EDTA Blood

TURNAROUND TIME

15-25 working days

TECHNOLOGY

DNA is isolated and next generation sequencing is performed on all coding exons and conserved intronic regions. Single base pair changes, small deletions and duplications and copy number variants (CNV) are identified. Sequencing runs result in a Quality Score of >30 (accuracy >99.9%) in at least 75% of all bases with a coverage of >20-fold. CNV detection sensitivity is 76.99% and precision is 62.59% (with GC limitation between 0.4 and 0.6 per target sensitivity is 77.04% and precision is 84.10%). Variant classification is performed following ACMG guidelines (Richards et al. 2015, Genet Med 17:405; Kearney et al. 2011, Genet Med 13:680).

TEST METHODOLOGY
Sequencing

Next generation
sequencing (Illumina)

Enrichment

Twist Human Core
Exome plus Ref Seq
Spikeln

SNV and CNV data anlaysis

Illumina DRAGEN
Bio-IT Platform

Data Evaluation

VarSeq by
GoldenHelix

Reference Genome

hg38, NCBI GR38

Quality Criteria

>30 (precision >99,9%)
in min. 75% of bases

SNV detection sensitivity

99.92-99.93%; confirmation of reported SNV with Sanger
sequencing, data analysis with
SeqPilot

Classification of variants

Richards et al. 2015, Genet Med
17:405; Ellard et al. “ACGS Best
Practice Guidelines for Variant
Classification 2020″

in silico algorithms

MaxEntScan,
SpliceSiteFinder-like,
REVEL

Databases

HGMD Professional
release, ClinVar,
gnomAD

OUR TESTS

Absence seizures

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

More informationLess information

ALZHEIMER‘S DISEASE, EARLY-ONSET

Genes: APP, PSEN1, PSEN2

More informationLess information

ALZHEIMER‘S DISEASE, LATE-ONSET

Genes: APOE

More informationLess information

Amyloidosis

Genes: TTR

More informationLess information

Ataxia with oculomotor apraxia

Genes: APTX, PIK3R5, PNKP, SETX

More informationLess information

ATAXIA, EPISODIC

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

More informationLess information

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

More informationLess information

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

More informationLess information

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

More informationLess information

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

More informationLess information

CADASIL SYNDROME

Genes: HTRA1, NOTCH3

More informationLess information

Charcot-Marie-Tooth disease

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

More informationLess information

Charcot-Marie-Tooth disease type 1 & 2

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

More informationLess information

Charcot-Marie-Tooth disease type 2, axonal, autosomal dominant

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

More informationLess information

Charcot-Marie-Tooth disease, type 1A

Genes: PMP22

More informationLess information

Charcot-Marie-Tooth disease, type 1B

Genes: MPZ

More informationLess information

Charcot-Marie-Tooth disease, type X1

Genes: GJB1

More informationLess information

Choreatic movement disorders (extended)

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

More informationLess information

Choreatic movement disorders (standard)

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

More informationLess information

Creutzfeldt–Jakob disease (CJD)

Genes: PRNP

More informationLess information

Dentatorubral-pallidoluysian atrophy (DRPLA)

Genes: ATN1

More informationLess information

DRAVET SYNDROME

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

More informationLess information

EPILEPSIES, CONGENITAL

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

More informationLess information

Epilepsy, familial focal

Genes: DEPDC5, GRIN2A, KCNA1, NPRL2, NPRL3, SCN3A

More informationLess information

Epilepsy, familial temporal lobe

Genes: CHRNA2, CHRNA4, CHRNB2, CPA6, GAL, KCNT1, LGI1, RELN

More informationLess information

Epilepsy, progressive myoclonic

Genes: CERS1, CSTB, EPM2A, GOSR2, KCNC1, KCTD7, LMNB2, NHLRC1, PRDM8, PRICKLE1, SCARB2

More informationLess information

Epilepsy, pyridoxine-dependent

Genes: ALDH7A1

More informationLess information

Epilepsy, therapy relevant

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

More informationLess information

Epileptic encephalopathy, early infantile (EIEE) (1)

Genes: ARX, CDKL5, KCNQ2, PCDH19, SCN1A, SCN2A, STXBP1

More informationLess information

Epileptic encephalopathy, early infantile (EIEE) (2)

Genes: DNM1, GABRA1, GABRB3, GNAO1, KCNA2, KCNT1, SCN8A, SLC12A5, SLC13A5, UBA5, WWOX

More informationLess information

Epileptic encephalopathy, early infantile (EIEE) (3)

Genes: GRIN2B, HCN1, KCNB1, PIGA, PLCB1, PNKP, SLC35A2, SPTAN1

More informationLess information

Epileptic encephalopathy, early infantile (EIEE) (extended)

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, SIK1, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TBC1D24, UBA5, WWOX, YWHAG

More informationLess information

Epileptic encephalopathy, early infantile, 9

Genes: PCDH19

More informationLess information

Febrile seizures, familial / Epilepsy, generalized, with febrile seizures plus

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

More informationLess information

Fragile X-associated tremor/ataxia syndrome (FXTAS)

Genes: FMR1

More informationLess information

FRIEDREICH ATAXIA

Genes: FXN

More informationLess information

Gerstmann-Straussler disease

Genes: PRNP

More informationLess information

GLUT1 deficiency syndrome

Genes: SLC2A1

More informationLess information

HUNTINGTON DISEASE

Genes: HTT

More informationLess information

HYPEREKPLEXIA, HEREDITARY (STARTLE DISEASE)

Genes: ARHGEF9, ATAD1, GLRA1, GLRB, SLC6A5

More informationLess information

Juvenile myoclonic epilepsy

Genes: CACNB4, CASR, CLCN2, EFHC1, GABRA1, GABRD, KCNMA1, SLC6A1, TBC1D24

More informationLess information

Leukoencephalopathy with vanishing white matter

Genes: EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5

More informationLess information

LISSENCEPHALY

Genes: ARX, DCX, KATNB1, MACF1, NDE1, PAFAH1B1, RELN, TMTC3, TUBA1A

More informationLess information

MIGRAINE, FAMILIAL HEMIPLEGIC

Genes: ATP1A2, CACNA1A, SCN1A

More informationLess information

Multiple sclerosis (MS)

Genes: HLA-DQB1

More informationLess information

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

More informationLess information

Neuropathy, hereditary sensory type 1 & 2

Genes: ATL1, ATL3, DNMT1, KIF1A, RETREG1, SPTLC1, SPTLC2

More informationLess information

NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES

Genes: PMP22

More informationLess information

PONTOCEREBELLAR HYPOPLASIA (extended)

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

More informationLess information

PONTOCEREBELLAR HYPOPLASIA (standard)

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

More informationLess information

Seizures, benign familial neonatal

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

More informationLess information

Small fiber neuropathy

Genes: SCN10A, SCN11A, SCN9A

More informationLess information

Spastic ataxia (extended)

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

More informationLess information

Spastic ataxia (standard)

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

More informationLess information

Spinocerebellar ataxia 1

Genes: ATXN1

More informationLess information

Spinocerebellar ataxia 17

Genes: TBP

More informationLess information

Spinocerebellar ataxia 2

Genes: ATXN2

More informationLess information

Spinocerebellar ataxia 3

Genes: ATXN3

More informationLess information

Spinocerebellar ataxia 6

Genes: CACNA1A

More informationLess information

Spinocerebellar ataxia 7

Genes: ATXN7

More informationLess information

TUBULINOPATHIES

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

More informationLess information

OUR NETWORK