What is an Inherited Neurological Disorder?

A neurological disorder is any medical issue that affects the nervous system. Your body’s nervous system includes your brain, spinal cord, and other nerves. Problems with the structure or function of any part of the nervous system can lead to a neurological disorder.

There are many causes for neurological disorders, including infections, injuries, and environmental factors such as poor nutrition or exposure to heavy metals like lead. A change in a gene can change the instructions to our brain, spinal cord and other nerves, which could result in a neurological disorder.

Recognize the Symptoms of a Neurological Disorder

Symptoms of a neurological disorder can be mild, such as muscle weakness, poor coordination, or changes in thinking patterns. Symptoms can also be more noticeable, such as seizures, pain, and intellectual disability. People with a neurological disorder can have just one or many of these symptoms.

Most neurological disorders that are caused by gene changes will begin affecting a person early in life, usually in childhood and sometimes even as early as birth. However, some neurological disorders caused by gene changes don’t affect a person until later in life. Any signs or symptoms may not be obvious until well into adulthood.

Genetic testing can be helpful in identifying the cause of the neurological disorder in many different situations.

neurological disorder icon

Over 6 million people in the US are affected by a neurological disorder

autism brain icon

1-2% of children in the US have an autism spectrum disorder

intellectual disability icon

2-3% of people in the US have an intellectual disability

epilepsy icon

1 in 26 people have epilepsy

How Genetic Testing May Help

impact of genetic testing

Your healthcare provider can give you better information about what to expect based on your genetic test results.

impact of genetic testing

Looking at current or worsening symptoms, or using screening tests, can help find new symptoms as early as possible.

impact of genetic testing

Your healthcare provider may discuss possible treatment options, such as using a medical dietary therapy or certain types of anti-seizure medications.

impact of genetic testing

Discussing the possibilities revealed in your genetic test results may help you to avoid other, potentially invasive, testing.

How Genetic Testing May Help Your Family

CAN NEUROLOGICAL DISORDERS RUN IN FAMILIES?

Many people with a neurological disorder are the first person in their family to have it. Often, genetic testing can find a gene mutation for someone with a neurological disorder that is not found in other family members and was not passed down from a parent. This is called a de novo, or new, gene mutation in a family.

denovo neurological disorder pedigree
Neurological disorder gene pedigree

In other families, gene changes that cause neurological disorders can be inherited from earlier generations.

Your doctor or genetic counselor can talk with you more about the inheritance pattern of the neurological disorder in your family.

Am I a Candidate for Genetic Testing?

YOUR GENES CARRY A STORY THAT IS UNIQUE TO YOU AND MAKES YOU WHO YOU ARE.

Genetic testing can help you better understand and manage the neurological disorder that may be occurring in your family.

Genetic testing for neurological disorders can include a variety of genes that are linked to the symptoms that your family member has. Based on the results, your healthcare provider may discuss more specific prognosis and treatment options for you and your family.

*Your healthcare provider may identify other reasons why you could consider genetic testing.
**Family members” refers to blood relatives, such as brothers / sisters / parents / grandparents / aunts / uncles / cousins

How is genetic testing performed for neurological disorders?

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Samples sent from you (and parents) to the lab

lab icon

Lab performs testing

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Reports available in 1-8 weeks, depending on the tests ordered

genetic testing for neurological disorder

What Test Results Can I Expect? And What Do I Do Once I Have Them?

POSITIVE, NEGATIVE, OR A VARIANT OF UNKNOWN SIGNIFICANCE (VUS)

Results from your genetic tests will fall into one of three categories:

A mutation related to a hereditary neurological disorder has been found in at least one of your tested genes:

A mutation was found in at least one of the genes tested.

There may be management recommendations specific to the gene that has a mutation.

Genetic testing for certain family members may be recommended.

No genetic mutations were found in any of your tested genes

Management recommendations for you may still be discussed, which will be based on your personal and family history

The issue of whether genetic testing should be considered for your family members may also be reviewed

At least one genetic change was found, but it is unclear if this change causes the neurological disorder or not

Management recommendations will be based on personal and family history

Discuss if genetic testing should be considered for your family members with your healthcare provider

Be aware that these results may change over time as we learn more information, and you could possibly get an updated result in the future

Tests and Gene Information

Click on the disease or category below to see all genes that appear on the test.

  • Epilepsy
    • EpiRapid®

      A 16 gene test with quick results for forms of epilepsy with reported therapies.

      Gene List

      ALDH7A1, FOLR1, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN8A, SLC2A1, STXBP1, TSC1, TSC2

    • EpiFirst-Fever®

      A 13 gene test for febrile seizures.

      Gene List

      CHD2, GABRA1, GABRB3, GABRG2, HCN1, PCDH19, PRRT2, SCN1A, SCN1B, SCN2A, SCN8A, STX1B, STXBP1

    • EpiFirst-IS®

      A 17 gene test for infantile spasms.

      Gene List

      ARX, CDKL5, DNM1, EEF1A2, FOXG1, GRIN1, GRIN2A, KCNQ2, KCNT1, SCN2A, SCN8A, SIK1, SLC25A22, SPTAN1, STXBP1, TSC1, TSC2

    • EpiFirst-Focal®

      An 11 gene test for focal epilepsy.

      Gene List

      CHRNA2, CHRNA4, CHRNB2, CRH, DEPDC5, GRIN2A, KCNT1, LGI1, PRRT2, SCN1A, SCN1B

    • EpilepsyNext®

      A comprehensive, 100 gene test for a variety of epilepsies.

      Gene List

      ALDH7A1, ARHGEF9, ARX, ATP13A2, ATP1A2, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CRH, CSTB, CTSD, CTSF, DCX, DEPDC5, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EPM2A, FLNA, FOLR1, FOXG1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GNAO1, GOSR2, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HNRNPU, IQSEC2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KIAA2022, LGI1, MECP2, MEF2C, MFSD8, NHLRC1, NRXN1, PCDH19, PIGA, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT2, PURA, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SIK1, SLC13A5, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TCF4, TPP1, TSC1, TSC2, UBE3A, WDR45, ZEB2

    • Neurodevelopment - Expanded®

      A comprehensive, 196 gene test for intellectual disability, autism spectrum disorders, and/or epilepsy.

      Gene List

      ABCD1, ACSL4, ADNP, ALDH7A1, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP13A2, ATP1A2, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CACNA1C, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CRH, CSTB, CTCF, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DHCR7, DLG3, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KATNAL2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LGI1, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MFSD8, MID1, NDP, NDUFA1, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, PORCN, PPT1, PQBP1, PRICKLE1, PRRT2, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SIK1, SLC13A5, SLC16A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBR1, TCF4, TIMM8A, TPP1, TRAPPC9, TSC1, TSC2, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2

    • ExomeNext-Proband™

      Gene List

      4500

    • ExomeNext-Proband plus mtDNA

      Gene List

      4500

    • ExomeNext-Duo™

      Gene List

      4500

    • ExomeNext-Duo plus mtDNA

      Gene List

      4500

    • ExomeNext-Trio™

      Gene List

      Whole Exome

    • ExomeNext-Trio plus mtDNA

      Gene List

      Whole Exome

    • SNP Array

      A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns. 

      Gene List

      Whole Genome

  • Neurodevelopment
    • Fragile X-associated Disorders

      Gene List

      FMR1

    • AutismNext®

      Gene List

      ADNP, ANKRD11, ARID1B, CACNA1C, CDKL5, CHD2, CHD7, CHD8, CNTNAP2, CREBBP, DHCR7, DYRK1A, FMR1, FOXG1, FOXP1, GRIA3, GRIN2B, HDAC8, KATNAL2, MECP2, MED12, MEF2C, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, PCDH19, POGZ, PTCHD1, PTEN, RAB39B, RAD21, RAI1, SCN2A, SHANK3, SLC6A8, SLC9A6, SMC1A, SMC3, SYNGAP1, TBR1, TCF4, TSC1, TSC2, UBE3A, UPF3B, ZEB2

    • IDNext®

      Gene List

      ABCD1, ACSL4, ADNP, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CNTNAP2, CREBBP, CTCF, CUL4B, DCX, DDX3X, DHCR7, DLG3, DNM1, DYNC1H1, DYRK1A, EHMT1, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GAMT, GATM, GDI1, GNAO1, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KCNJ10, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MID1, NDP, NDUFA1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLP1, PNKP, POGZ, PORCN, PPT1, PQBP1, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCN2A, SCN8A, SLC16A2, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, ST3GAL3, STXBP1, SYN1, SYNGAP1, TBR1, TCF4, TIMM8A, TRAPPC9, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2

    • Neurodevelopment- Expanded®

      A comprehensive, 196 gene test for intellectual disability, autism spectrum disorders, and/or epilepsy.

      Gene List

      ABCD1, ACSL4, ADNP, ALDH7A1, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP13A2, ATP1A2, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CACNA1C, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CRH, CSTB, CTCF, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DHCR7, DLG3, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KATNAL2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LGI1, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MFSD8, MID1, NDP, NDUFA1, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, PORCN, PPT1, PQBP1, PRICKLE1, PRRT2, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SIK1, SLC13A5, SLC16A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBR1, TCF4, TIMM8A, TPP1, TRAPPC9, TSC1, TSC2, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2

    • ExomeNext®

      Gene List

      Whole Exome

    • SNP Array

      A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns. 

      Gene List

      Whole Genome

  • Neurocutaneous / NeuroOncology
    • Neurofibromatosis 2 (NF2)

      Gene List

      NF2

    • Schwannomatosis

      Gene List

      SMARCB1

    • Legius syndrome

      Gene List

      SPRED1

    • von Hippel-Lindau(VHL) disease

      Gene List

      VHL

    • Ataxia-telangiectasia (AT)

      Gene List

      ATM

    • Li-Fraumeni syndrome

      Gene List

      TP53

    • Tuberous sclerosis complex (TSC)

      Gene List

      TSC1, TSC2

    • Hereditary hemorrhagic telangiectasia (HHT)

      Gene List

      ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4

    • Nevoid basal cell carcinoma (Gorlin syndrome)

      Gene List

      PTCH1

    • BrainTumorNext®

      Testing for hereditary brain tumors, including genes linked to a higher chance to develop different types of brain tumors and/or other cancers

      Gene List

      AIP, ALK, APC, CDKN1B, CDKN2A, DICER1, EPCAM, LZTR1, MEN1, MLH1, MSH2, MSH6, NBN, NF1, NF2, PHOX2B, PMS2, POT1, PRKAR1A, PTCH1, PTEN, SMARCA4, SMARCB1, SMARCE1, SUFU, TP53, TSC1, TSC2, VHL

  • Familial Hemiplegic Migraine
    • Familial Hemiplegic Migraine

      Gene List

      ATP1A2, CACNA1A, PRRT2, SCN1A

  • Exome & Microarray
    • ExomeNext®

      Gene List

      Whole Exome

    • SNP Array

      A genomic test that looks for causes of developmental delay, intellectual disability, autism spectrum disorders, and other pediatric health concerns. 

      Gene List

      Whole Genome

Want to Know More About Genetic Testing?

Ambry’s current menu of genetic tests is focused in four categories of genetic disease: Hereditary Cancer, Heart Conditions, Hereditary Neurological Disorders, and Other Rare Conditions. If the condition you are concerned about falls into one of these categories, click on the appropriate button to learn more.

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