Neurology

Code Test Genes TAT
9999 ExomeNext® Whole Exome 8-12 weeks
9545 CustomNext-Neuro
Show all > 1480 genes 2-4 weeks
6864 EpilepsyNext®
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 2-4 weeks
6860 NeurodevelopmentNext-Expanded
Show all > 1480 genes 6-8 weeks
5490 SNP Array
Whole Genome 14-21 days
6862 EpiRapid®
ALDH7A1, AMT, DDC, FOLR1, GLDC, KCNQ2, KCNQ3, KCNT1, MECP2, PCDH19, PNPO, POLG, PRRT2, SCN1A, SCN2A, SCN8A, SLC19A3, SLC2A1, SLC6A8, STXBP1, TSC1, TSC2 10-14 days
6865 EpilepsyNext-Expanded
Show all > 940 genes 6-8 weeks
9993 ExomeNext-Proband™
4500 6-8 weeks
9994 ExomeNext-Proband plus mtDNA
4500 6-8 weeks
9991 ExomeNext-Duo™
4500 6-8 weeks
9992 ExomeNext-Duo plus mtDNA
4500 6-8 weeks
9995 ExomeNext-Trio™
Whole Exome 6-8 weeks
9996 ExomeNext-Trio plus mtDNA
Whole Exome 6-8 weeks
4544 FMR1 repeat analysis
FMR1 7-14 days
6863 AutismNext®
ACSL4, ADNP, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD2, CHD3, CHD8, CIC, CREBBP, CTNNB1, CTNND2, DLL1, DYRK1A, EHMT1, EIF3F, ELP2, FMR1, FOXP1, FOXP2, FRMPD4, GABRB3, GRIA2, GRIA3, GRIN2B, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MECP2, MED12, MED13, MEF2C, NLGN3, NLGN4X, OPHN1, PAK3, PHIP, POGZ, PTCHD1, PTEN, RAB39B, RAI1, RORB, SETBP1, SETD2, SETD5, SHANK2, SHANK3, SYN1, TANC2, TBR1, TCF20, TCF7L2, TRIP12, TSC1, TSC2, UBE2A, UPF3B, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292 2-4 weeks
6861 NeurodevelopmentNext™
Show all 202 genes 2-4 weeks
9024 NF2 seq and del/dup
NF2 14-21 days
7180 SMARCB1 seq and del/dup
SMARCB1 14-21 days
5724 SPRED1 seq and del/dup
SPRED1 14-21 days
2606 VHL seq and del/dup
VHL 14-21 days
9014 ATM seq and del/dup
ATM 14-21 days
2866 TP53 seq and del/dup
TP53 14-21 days
5904 TSC1/2 seq and del/dup
TSC1, TSC2 14-21 days
8672 HHTNext®
ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4 14-21 days
5684 PTCH1 seq and del/dup
PTCH1 14-21 days
8847 BrainTumorNext®
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 14-21 days
6866 Familial Hemiplegic Migraine
ATP1A2, ATP1A3, CACNA1A, PRRT2, SCN1A, SLC1A3, SLC2A1 2-4 weeks
6867 Movement Disorders + Hypotonia Panel
AARS, ABAT, ADCY5, ALDH5A1, ALDH7A1, AMT, AP1S2, ARHGEF9, ATP1A2, ATP1A3, ATP7B, BCKDHA, BCKDHB, COASY, DBT, DDC, DDX3X, DLD, DNAJC12, DNM1, EIF2AK2, ELP2, GAMT, GCDH, GCH1, GLDC, GLRA1, GLRB, GNAO1, GNB1, HPRT1, KCNB1, KCNMA1, KMT2B, MECR, MYBPC1, NBEA, NGLY1, NTNG2, PANK2, PCCA, PCCB, PDE10A, PGAP1, PLA2G6, PNKD, PNPO, PNPT1, PRRT2, PTS, QDPR, RHOBTB2, SCN2A, SCN8A, SERAC1, SGCE, SLC16A2, SLC17A5, SLC18A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SLC6A5, SLC6A8, SLC9A6, SPR, SYT1, TET3, TH, TNR, TOR1A, TUBB4A, UBTF, VAC14, VAMP2, VPS13D, WARS2, WDR45, WDR73, YIF1B 14-21 days

Please select a category to find your test or learn more about our highlighted tests below

  • Highlighted Tests
    • why choose ambry

      A comprehensive neurological genetic test panel can help families find answers quickly and potentially guide them toward the best care for their child. The freedom that comes with these answers can help end the diagnostic odyssey, avoiding alternate and potentially invasive testing, offering the chance for an improved quality of life. It can also help healthcare providers predict medical risks that may be associated with the condition and may offer a chance to implement life-giving interventions. The sooner we can uncover the source of the condition the sooner we can work towards a treatment. In times like this a parents’ world comes to a standstill. Finding answers becomes critical.

      Choose from one of our more frequently ordered tests listed below.

      ExomeNext®

      The world of genetics and our understanding of genetic causes for disease is rapidly changing. ExomeNext is a comprehensive test analyzing all 20,000 genes which has been successful in ending the diagnostic odyssey for 30% of undiagnosed patients. ExomeNext is uniquely positioned to analyze genes that are both related to and outside of the clinician’s differential diagnoses.

      CustomNext-Neuro

      CustomNext-Neuro gives you the flexibility to choose up to 500 genes from our neurology menu associated with intellectual disability, autism spectrum disorders, and/or epilepsy so you can design a test that best fits the needs of your patient to find a clear diagnosis and inform medical management.

      EpilepsyNext®

      Identifying an underlying genetic cause for a patient’s epilepsy can provide a clear diagnosis, inform personalized medical management, and identify at-risk relatives. EpilepsyNext includes 124 genes accounting for approximately 60% of patients identified to have genetic epilepsies such as Dravet syndrome, epileptic encephalopathy, non-lesional focal epilepsy, and febrile-related seizures.

      NeurodevelopmentNext-Expanded

      There is growing evidence of common neurodevelopmental pathways that could explain the significant overlap between a range of neurodevelopmental disorders. This panel of >1450 genes is designed to identify potential genetic causes of neonatal to childhood onset developmental delay, seizures, intellectual disability, developmental regression, and/or autism spectrum disorders. This test includes genes with moderate clinical validity and above and is regularly updated due to proactive review of current literature using internal, peer-reviewed clinical validity scheme (Smith ED, Radtke K, Rossi M, et al. 2017 Human mutation 38(5):600-608).

      SNP Array

      SNP Array (chromosomal microarray) is useful for identifying slight variation and is recommended as a first-tier genetic test. It is often used in the postnatal evaluation of individuals with multiple congenital anomalies, developmental delay/intellectual disability and autism spectrum disorders. As a cost-effective approach for other diagnoses including chronic kidney disease, congenital heart defects, and infantile spasms, our SNP Array is your first line of defense when it comes to identifying these disorders.

  • Epilepsy
    • Epilepsy Panels
      • Epilepsy

        Epilepsy Panels

        Name TAT Genes
        EpiRapid® 10-14 days 22
        EpilepsyNext® 2-4 weeks 124
        EpilepsyNext-Expanded 6-8 weeks 944
    • Comprehensive Testing
      • Epilepsy

        Comprehensive Testing

        Name TAT Genes
        CustomNext-Neuro 2-4 weeks 1482
        NeurodevelopmentNext-Expanded 6-8 weeks 1482
        ExomeNext-Proband™ 6-8 weeks ~ 4,500 genes
        ExomeNext-Proband plus mtDNA 6-8 weeks ~ 4,500 genes
        ExomeNext-Duo™ 6-8 weeks ~ 4,500 genes
        ExomeNext-Duo plus mtDNA 6-8 weeks ~ 4,500 genes
        ExomeNext-Trio™ 6-8 weeks ~ 20,000 Genes
        ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 Genes
        SNP Array 14-21 days Whole Genome
  • Neurodevelopment
    • Single Gene Test
      • Neurodevelopment

        Single Gene Test

        Name TAT Genes
        FMR1 7-14 days 1
    • Comprehensive Testing
      • Neurodevelopment

        Comprehensive Testing

        Name TAT Genes
        AutismNext® 2-4 weeks 72
        NeurodevelopmentNext™ 2-4 weeks 202
        NeurodevelopmentNext-Expanded 6-8 weeks 1482
        ExomeNext-Proband™ 6-8 weeks ~ 4,500 genes
        ExomeNext-Proband plus mtDNA 6-8 weeks ~ 4,500 genes
        ExomeNext-Duo™ 6-8 weeks ~ 4,500 genes
        ExomeNext-Duo plus mtDNA 6-8 weeks ~ 4,500 genes
        ExomeNext-Trio™ 6-8 weeks ~ 20,000 Genes
        ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 Genes
        SNP Array 14-21 days Whole Genome
  • Neurocutaneous / NeuroOncology
    • Single Gene Tests
      • Neurocutaneous / NeuroOncology

        Single Gene Tests

        Name TAT Genes
        Neurofibromatosis 2 (NF2) 14-21 days 1
        Schwannomatosis 14-21 days 1
        Legius syndrome 14-21 days 1
        von Hippel-Lindau(VHL) disease 14-21 days 1
        Ataxia-telangiectasia (AT) 14-21 days 1
        Li-Fraumeni syndrome 14-21 days 1
    • Targeted Panels
      • Neurocutaneous / NeuroOncology

        Targeted Panels

        Name TAT Genes
        Tuberous sclerosis complex (TSC) 14-21 days 2
        Hereditary hemorrhagic telangiectasia (HHT) 14-21 days 6
        Nevoid basal cell carcinoma (Gorlin syndrome) 14-21 days 1
    • Comprehensive Testing
      • Neurocutaneous / NeuroOncology

        Comprehensive Testing

        Name TAT Genes
        BrainTumorNext® 14-21 days 29
  • Familial Hemiplegic Migraine
    • Familial Hemiplegic Migraine

      Targeted Panels

      Name TAT Genes
      Familial Hemiplegic Migraine 2-4 weeks 7
  • Movement Disorders
    • Movement Disorders

      Movement Disorder Panels

      Name TAT Genes
      Movement Disorders + Hypotonia Panel 14-21 days 81
  • Exome & Microarray
    • Exome & Microarray

      Comprehensive Testing

      Name TAT Genes
      ExomeNext-Proband™ 6-8 weeks ~ 4,500 genes
      ExomeNext-Proband plus mtDNA 6-8 weeks ~ 4,500 genes
      ExomeNext-Duo™ 6-8 weeks ~ 4,500 genes
      ExomeNext-Duo plus mtDNA 6-8 weeks ~ 4,500 genes
      ExomeNext-Trio™ 6-8 weeks ~ 20,000 Genes
      ExomeNext-Trio plus mtDNA 6-8 weeks ~ 20,000 Genes
      SNP Array 14-21 days Whole Genome

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