Neurology

Code Test Genes TAT
6866 Familial Hemiplegic Migraine ATP1A2, CACNA1A, PRRT2, SCN1A 2-4 weeks
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
9545 CustomNext-Neuro Show all > 1400 genes 2-4 weeks
6860 NeurodevelopmentNext-Expanded Show all > 1400 genes 4-6 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
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 > 890 genes 2-4 weeks
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
9992 ExomeNext-Duo plus mtDNA 4500 6-8 weeks
9991 ExomeNext-Duo 4500 6-8 weeks
9993 ExomeNext-Proband 4500 6-8 weeks
9995 ExomeNext-Trio Whole Exome 6-8 weeks
9996 ExomeNext-Trio plus mtDNA Whole Exome 6-8 weeks
9994 ExomeNext-Proband plus mtDNA 4500 6-8 weeks
5490 SNP Array Whole Genome 14-21 days
9014 ATM seq and del/dup ATM 14-21 days
9024 NF2 seq and del/dup NF2 14-21 days
8672 HHTNext ACVRL1, ENG, EPHB4, GDF2, RASA1, SMAD4 14-21 days
7180 SMARCB1 seq and del/dup SMARCB1 14-21 days
5684 PTCH1 seq and del/dup PTCH1 14-21 days
5724 SPRED1 seq and del/dup SPRED1 14-21 days
5904 TSC1/2 seq and del/dup TSC1, TSC2 14-21 days
4544 FMR1 repeat analysis FMR1 7-14 days
2606 VHL seq and del/dup VHL 14-21 days
2866 TP53 seq and del/dup TP53 14-21 days

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

  • Epilepsy
    • Epilepsy Panels
      • Name TAT Genes
        EpiRapid® 10-14 days 22
        EpilepsyNext® 2-4 weeks 124
        EpilepsyNext-Expanded 2-4 weeks 892
    • Comprehensive Testing
      • Name TAT Genes
        CustomNext-Neuro 2-4 weeks 1406
        NeurodevelopmentNext-Expanded 4-6 weeks 1406
        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
      • Name TAT Genes
        FMR1 7-14 days 1
    • Comprehensive Testing
      • Name TAT Genes
        AutismNext® 2-4 weeks 72
        NeurodevelopmentNext™ 2-4 weeks 202
        NeurodevelopmentNext-Expanded 4-6 weeks 1406
        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
      • 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
      • 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
      • Name TAT Genes
        BrainTumorNext® 14-21 days 29
  • Familial Hemiplegic Migraine
  • 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

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, providing detailed information on novel discoveries to improve patient outcomes.

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 >1400 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 certain genetic variations 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. SNP Array is your first line of defense when it comes to identifying the cause of these disorders.

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