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Hereditary Neurological Disorders

Uncovering the genetic cause of neurological disorders

In some families, neurological disorders affecting the brain, spinal cord, and nerves are hereditary. Understanding a diagnosis and medical risks can help guide decisions about treatment and care.

Understanding Hereditary Neurological Disorders

Some neurological disorders affecting the brain, spinal cord, and other parts of the nervous system are hereditary. These disorders are linked to inherited gene changes (mutations) that affect how the nervous system works.

Neurological disorders can also develop because of infections, injuries, environmental exposures, and other factors. Understanding genetic risk can help support earlier diagnosis, specialized treatment, and important care decisions.

Counter statistics

6 million+
people in the US are affected by a neurological disorder
1-2%
of children in the US have an autism spectrum disorder
2-3%
of people in the US have an intellectual disability
1 in 26
people will develop epilepsy in their lifetime

Recognize the Symptoms

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In Early Childhood
Many signs and symptoms first appear early in life, and sometimes at birth
  • Developmental delay or regression in milestones
  • Seizures or epilepsy
  • Intellectual disability
  • Autism spectrum disorder behaviors
  • Muscle weakness or poor coordination (hypotonia)
  • Speech and language difficulties
  • Changes in thinking or learning patterns
Optimistic Hispanic doctor woman showing medical report to female patient
In Adolescence and Adulthood
Some signs and symptoms only appear later in life, in adolescence or adulthood
  • Progressive muscle weakness or wasting
  • Loss of coordination or balance (ataxia)
  • Peripheral neuropathy (tingling, numbness in limbs)
  • Movement disorders (tremors, stiffness)
  • New-onset seizures in adulthood
  • Memory or cognitive changes
  • Psychiatric symptoms alongside neurological signs
Am I at Risk?

When to Consider Genetic Testing

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Unexplained neurological symptoms
A family member has seizures, developmental delays, movement disorders, or other neurological symptoms without clear diagnosis
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Child with developmental delay or autism
A child is experiencing developmental regression, intellectual disability, or has received an autism spectrum disorder diagnosis
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Family history of neurological disorder
Multiple family members across generations have been diagnosed with a similar neurological condition
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Seeking clarity on treatment options
Knowing the specific gene involved could help guide medication choice, dietary therapy, or other management decisions
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Family planning considerations
You or a partner carry a known neurological gene variant, or have had a child with a disorder and want to understand recurrence risk
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Avoiding additional invasive testing
Genetic results may help confirm or rule out a diagnosis without requiring additional biopsies, imaging, or other invasive procedures
Why It Matters

What Genetic Testing Can Change

Having a genetic risk doesn’t mean a serious neurological problem is inevitable. It means you and your healthcare provider can take action — and so can your family.
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For You
How results may shape your care plan
  • Confirm or clarify an inherited neurological disorder diagnosis or risk
  • Support earlier screening and monitoring for new or changing symptoms, or information about what to expect over time
  • Guide specialized treatment decisions, including medical dietary therapy or certain anti-seizure medicines matched to your genetic profile
  • Help avoid unnecessary or invasive testing procedures
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For Your Family
Results may affect close family members
  • Knowing whether a gene mutation is inherited or new in a family can help clarify risks for other biological relatives
  • Sharing your results could prompt family members to consider genetic testing and take early proactive steps
  • Ambry’s Patient for Life program monitors test results over time — if science advances, your healthcare provider will be notified
Understanding Results

What Test Results Actually Mean

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Negative

No gene mutations linked to hereditary neurological disorders were found in any of the genes tested.

A negative genetic test result can be reassuring, but personal and family medical history may still affect neurological risk and care decisions. Discuss next steps with your healthcare provider.

Genetic testing may still be appropriate for other family members to consider, depending on their medical histories.

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Positive

A mutation (or mutations) linked to an inherited neurological disorder was found in at least one of the genes tested.

A positive genetic test result may help confirm a diagnosis and guide specialized treatment, medical care, and monitoring recommendations based on the gene and mutation involved.

Depending on the inheritance pattern, biological family members may also carry the same mutation(s). Genetic testing may be appropriate for them to consider.

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VUS

A genetic change was found, but it is currently unclear whether it causes a hereditary neurological disorder.

VUS = Variant of Uncertain Significance. Until more is understood about the science, medical care and treatment decisions should be based on a person’s symptoms, personal medical history, and family history.

These test results can change over time as scientific knowledge grows. Ambry’s Patient for Life program monitors test results over time — if science advances, your healthcare provider will be notified.

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Carrier

A mutation linked to a hereditary neurological disorder was found – as a carrier, you are not expected to develop symptoms.

Knowing your carrier status may still be important for family planning and could have implications for biological relatives.

Your regular healthcare provider or a genetic counselor can help explain what these results may mean for you and your family.

Tests and Gene Information

Find information about our neurology tests here. Click the arrows to expand the gene list to see all of genes that are included on each test.
EpilepsyNext-Expanded®
965 Genes
Testing of >950 genes associated with genetic causes of epilepsy-related disorders
AAAS
AARS
AASS
ABAT
ABCC8
ABCD1
ACAD8
ACAD9
ACADM
ACADVL
ACAT1
ACO2
ACOX1
ACP5
ACSF3
ACTB
ACTG1
ACTL6B
ACVRL1
ACY1
ADAM22
ADARB1
ADAT3
ADGRG1
ADK
ADNP
ADPRHL2
ADSL
AFG3L2
AGK
AGL
AGO1
AHCY
AHDC1
AIFM1
AIMP2
AKT2
AKT3
ALDH18A1
ALDH3A2
ALDH5A1
ALDH7A1
ALDOB
ALG1
ALG11
ALG12
ALG13
ALG14
ALG2
ALG3
ALG6
ALG9
ALMS1
ALPL
AMACR
AMER1
AMPD2
AMT
ANK2
ANK3
ANKLE2
ANKRD11
ANKRD17
ANTXR1
AP1G1
AP1S2
AP3B2
AP3D1
AP4B1
AP4E1
AP4M1
AP4S1
APC2
APOPT1
AQP2
ARFGEF2
ARG1
ARHGAP31
ARHGEF9
ARID1A
ARID1B
ARL13B
ARMC9
ARSA
ARV1
ARX
ASAH1
ASL
ASNS
ASPA
ASPM
ASS1
ASXL1
ASXL2
ASXL3
ATAD1
ATAD3A
ATN1
ATP13A2
ATP1A2
ATP1A3
ATP2A2
ATP5A1
ATP5D
ATP6AP1
ATP6AP2
ATP6V0A2
ATP6V1A
ATP7A
ATR
ATRX
AUH
AUTS2
AVP
AVPR2
B3GALNT2
B4GALNT1
B4GAT1
BCAP31
BCAS3
BCKDHA
BCKDHB
BCKDK
BCL11A
BCL11B
BCS1L
BMP4
BOLA3
BRAF
BRAT1
BRPF1
BRSK2
BSCL2
BTD
BUB1B
C10orf2
C12orf57
C19orf70
C2orf69
C5orf42
CA5A
CACNA1A
CACNA1C
CACNA1D
CACNA1E
CACNA1G
CACNA2D2
CAD
CAMK2A
CAMK2B
CAPN10
CARS2
CASK
CASR
CAV1
CBS
CC2D1A
CC2D2A
CCDC115
CCDC88C
CCM2
CCND2
CDC42
CDH2
CDK10
CDK13
CDKL5
CENPJ
CEP85L
CHD2
CHD8
CHKB
CHRNA2
CHRNA4
CHRNB2
CIC
CIT
CKAP2L
CLCN4
CLDN16
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CLPP
CLTC
CNKSR2
CNNM2
CNOT1
CNOT3
CNTNAP1
CNTNAP2
COG4
COG5
COG6
COG7
COG8
COL18A1
COL3A1
COL4A1
COL4A2
COL4A3BP
COLGALT1
COQ2
COQ4
COQ6
COQ8A
COQ9
COX10
COX15
COX20
COX6B1
CPLX1
CPS1
CPT1A
CPT2
CRB2
CRBN
CREBBP
CRLF1
CSDE1
CSF1R
CSNK2B
CSTB
CTC1
CTNNA2
CTNNB1
CTSA
CTSD
CTSF
CUL4B
CUX2
CYFIP2
CYP27B1
D2HGDH
DBH
DBT
DCX
DDC
DDX23
DDX3X
DEAF1
DEGS1
DENND5A
DEPDC5
DGUOK
DHCR24
DHDDS
DHFR
DHTKD1
DHX30
DIAPH1
DLD
DLL1
DMXL2
DNAJC5
DNAJC6
DNM1
DNM1L
DNMT3A
DOCK6
DOCK7
DOLK
DPAGT1
DPM1
DPYD
DPYS
DYNC1H1
DYRK1A
EARS2
EBP
ECHS1
ECM1
EEF1A2
EEF1B2
EFTUD2
EHMT1
EIF2AK2
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF2S3
EIF3F
ELAC2
ELOVL4
EMC10
EMG1
EML1
EMX2
ENG
ENPP1
EOGT
EP300
EPG5
EPM2A
ERLIN2
ESCO2
ETFA
ETFB
ETFDH
ETHE1
EXOC7
EXOSC3
EXTL3
EZH2
FA2H
FAM111A
FAM126A
FAM50A
FAR1
FARS2
FARSB
FASTKD2
FBP1
FBXL4
FBXO11
FDXR
FGF12
FGF23
FGFR2
FGFR3
FH
FKTN
FLNA
FLVCR2
FMN2
FMR1
FOLR1
FOXG1
FOXP1
FOXRED1
FRMPD4
FRRS1L
FTSJ1
FUCA1
FUT8
FXYD2
G6PC
GABBR2
GABRA1
GABRA2
GABRA3
GABRA5
GABRB2
GABRB3
GABRG2
GAD1
GALC
GALNT2
GAMT
GATA6
GATAD2B
GATM
GBA
GCDH
GDI1
GFAP
GFM1
GFM2
GJC2
GK
GLB1
GLDC
GLI2
GLRA1
GLRA2
GLRB
GLUD1
GLUL
GM2A
GNAI1
GNAO1
GNAS
GNB1
GNB5
GNE
GNS
GOSR2
GPAA1
GPC3
GPHN
GPSM2
GPT2
GRIA2
GRIA3
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRM1
GRM7
GRN
GSS
GTPBP2
GTPBP3
GUCY1A3
H3F3A
H3F3B
HACE1
HADH
HAX1
HCCS
HCFC1
HCN1
HCN2
HDAC8
HECW2
HEPACAM
HERC1
HERC2
HESX1
HEXA
HEXB
HGSNAT
HIBCH
HIST1H4E
HIVEP2
HLCS
HMGCL
HMGCS2
HNRNPH1
HNRNPH2
HNRNPR
HNRNPU
HOXA1
HPD
HPDL
HRAS
HSD17B10
HSD17B4
HTRA2
HUWE1
IARS2
IBA57
IDH2
IDS
IER3IP1
IFIH1
IKBKG
IL1RAPL1
INPP5K
IQSEC2
IRF2BPL
ITPA
ITPR1
IVD
JAM3
KANSL1
KARS
KAT8
KATNB1
KCNA1
KCNA2
KCNB1
KCNC1
KCNC2
KCND2
KCNH1
KCNJ1
KCNJ10
KCNJ11
KCNJ6
KCNMA1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCNT2
KCTD3
KCTD7
KDM3B
KDM5C
KDM6A
KDM6B
KIAA2022
KIF11
KIF1A
KIF2A
KIF5C
KIF7
KLHL7
KMT2B
KMT2D
KMT2E
KMT5B
KPTN
KRIT1
L2HGDH
LAMA2
LAMB1
LAMC3
LARS
LBR
LGI1
LGI4
LIAS
LIG3
LMNB1
LRPPRC
LSS
LYST
LZTFL1
MACF1
MADD
MAF
MAGED2
MAGEL2
MAN1B1
MAP1B
MAP2K1
MAP2K2
MAPK8IP3
MAPRE2
MAST1
MAST3
MBD5
MBOAT7
MCCC1
MCCC2
MDH2
MECP2
MED12
MED17
MED27
MEF2C
METTL23
MFF
MFSD8
MGAT2
MIPEP
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MN1
MOCS1
MOCS2
MOGS
MPDU1
MPDZ
MRAP
MRPS22
MRPS34
MSL3
MSX2
MTCL1
MTFMT
MTO1
MTOR
MTR
MTRR
MYO5A
NAA10
NACC1
NADK2
NAGA
NAGLU
NAGS
NALCN
NANS
NAPB
NARS
NARS2
NAXD
NAXE
NBEA
NDE1
NDP
NDST1
NDUFA1
NDUFA2
NDUFA6
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFAF8
NDUFB11
NDUFB8
NDUFS1
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEDD4L
NEU1
NEUROD2
NFIA
NGLY1
NHLRC1
NIPBL
NLRP3
NNT
NPC1
NPC2
NPRL2
NPRL3
NR2F1
NR4A2
NRROS
NSD1
NSDHL
NSUN2
NTRK2
NUS1
OCLN
OCRL
OGDHL
OPHN1
OSGEP
OTC
OTUD6B
OXR1
P4HTM
PACS1
PACS2
PAFAH1B1
PAH
PAK1
PARS2
PC
PCCA
PCCB
PCDH12
PCDH19
PCDHGC4
PCK1
PCLO
PCYT2
PDHA1
PDHX
PDSS2
PET100
PEX1
PEX10
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP3
PGK1
PGM2L1
PHF21A
PHF6
PHGDH
PHKA2
PHKG2
PI4KA
PIDD1
PIGA
PIGB
PIGG
PIGH
PIGK
PIGL
PIGM
PIGN
PIGO
PIGP
PIGQ
PIGS
PIGT
PIGU
PIGV
PIGW
PIK3CA
PIK3R2
PLA2G6
PLAA
PLCB1
PLK4
PLP1
PMM2
PMPCB
PNKP
PNPLA8
PNPO
PNPT1
POLA1
POLG
POLR3A
POU3F3
PPA2
PPARG
PPP2CA
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PQBP1
PRDX1
PRF1
PRICKLE1
PRMT7
PROP1
PROSC
PRRT2
PRUNE1
PSAP
PSMD12
PSPH
PTCH1
PTEN
PTPN23
PTPN4
PTS
PUF60
PUM1
PURA
PYCR2
QARS
QDPR
RAB11B
RAB18
RAB27A
RAB39B
RAC1
RAC3
RAI1
RALA
RALGAPA1
RARS2
RBM10
RBM8A
RELN
RFT1
RHOBTB2
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
ROGDI
RORA
RORB
RPGRIP1L
RPIA
RPL10
RPS6KA3
RRM2B
RSRC1
RTN4IP1
RTTN
RYR2
SACS
SAMHD1
SASS6
SATB1
SATB2
SCAF4
SCAMP5
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SCO1
SCYL2
SDCCAG8
SDHA
SDHD
SEMA6B
SEPSECS
SERAC1
SERPINI1
SETBP1
SETD1A
SETD1B
SETD2
SETD5
SFXN4
SGSH
SHANK3
SHH
SIK1
SIN3A
SIX3
SLC12A1
SLC12A3
SLC12A5
SLC12A6
SLC13A5
SLC16A1
SLC17A5
SLC18A2
SLC19A2
SLC19A3
SLC1A2
SLC1A3
SLC1A4
SLC25A1
SLC25A12
SLC25A15
SLC25A20
SLC25A22
SLC25A4
SLC25A42
SLC2A1
SLC33A1
SLC35A1
SLC35A2
SLC35A3
SLC39A8
SLC46A1
SLC6A1
SLC6A5
SLC6A8
SLC9A6
SMAD2
SMAD4
SMARCA2
SMARCB1
SMC1A
SMG9
SMPD4
SMS
SNAP25
SNX27
SON
SOX2
SPAST
SPATA5
SPATA5L1
SPTAN1
SPTBN1
ST3GAL3
ST3GAL5
STAG1
STAMBP
STRADA
STT3A
STX1B
STXBP1
SUCLA2
SUOX
SURF1
SYN1
SYNGAP1
SYNJ1
SYP
SYT1
SZT2
TACO1
TANC2
TANGO2
TBC1D23
TBC1D24
TBC1D2B
TBCD
TBCE
TBCK
TBL1XR1
TBX19
TCF4
TDP2
TECPR2
TELO2
TET3
TFE3
THOC2
TIMM50
TK2
TLK2
TMEM222
TMEM5
TMEM70
TMEM94
TMTC3
TMX2
TNFRSF11A
TNPO2
TOE1
TPK1
TPP1
TRAF7
TRAK1
TRAPPC11
TRAPPC6B
TRAPPC9
TREX1
TRIM8
TRIO
TRIP12
TRIT1
TRMT1
TRMT10A
TRNT1
TRPM6
TRRAP
TSC1
TSC2
TSEN15
TSEN2
TSEN54
TSFM
TUBA1A
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP6
TYROBP
UBA5
UBE2A
UBE3A
UBE4A
UBTF
UGDH
UGP2
UGT1A1
UNC80
UPF3B
USP7
USP9X
VAMP2
VARS
VARS2
VDR
VPS11
VPS53
WARS2
WASF1
WDR26
WDR37
WDR4
WDR45
WDR45B
WDR62
WDR73
WFS1
WWOX
YIF1B
YWHAG
ZBTB18
ZC4H2
ZDHHC9
ZEB2
ZIC2
ZMYND11
ZNF142
ZNF526
ZNHIT3
ZSWIM6
EpilepsyNext®
124 Genes
124 of the more common genes associated with a variety of genetic epilepsies
ALDH7A1
AMT
ANKRD11
ARHGEF9
ARX
ASNS
ATP13A2
ATP1A2
ATP1A3
BRAT1
CACNA1A
CACNA1E
CASK
CDKL5
CHD2
CHRNA2
CHRNA4
CHRNB2
CLN3
CLN5
CLN6
CLN8
CNTNAP2
COL4A1
CSTB
CTSD
CTSF
DCX
DDC
DEPDC5
DNAJC5
DNM1
DYNC1H1
DYRK1A
EEF1A2
EHMT1
EPM2A
FLNA
FOLR1
FOXG1
FOXP1
GABRA1
GABRB3
GABRG2
GAMT
GATM
GLDC
GNAO1
GOSR2
GRIN1
GRIN2A
GRIN2B
GRN
H3F3A
HCN1
HNRNPU
IQSEC2
KCNA2
KCNB1
KCNC1
KCNH1
KCNJ10
KCNQ2
KCNQ3
KCNT1
KCTD7
KIAA2022
LGI1
MBD5
MECP2
MEF2C
MFSD8
MOCS1
MOCS2
NGLY1
NHLRC1
PACS1
PCDH19
PHGDH
PIGA
PLCB1
PNKP
PNPO
POLG
PPT1
PRICKLE1
PRRT2
PURA
RHOBTB2
SATB2
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SIK1
SLC13A5
SLC19A3
SLC25A22
SLC2A1
SLC35A2
SLC6A1
SLC6A8
SLC9A6
SMC1A
SNAP25
SPTAN1
ST3GAL5
STX1B
STXBP1
SYNGAP1
SZT2
TBC1D24
TBL1XR1
TCF4
TPP1
TRIO
TSC1
TSC2
TUBA1A
UBE3A
WDR45
ZEB2

Resources

Everything you need to understand your results and take next steps.
Patient Guides
Exome Sequencing Patient Brochure
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Useful Organizations to Know

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