Neurology Test Menu Update

Available for samples received on/after August 31, 2020

We have updated our neurology test menu to provide more streamlined, up-to-date, and clinically relevant testing options to healthcare providers and patients. Contact your regional Account Executive or Genomic Science Liaison for more information.

New Tests
Test Name: EpilepsyNext-Expanded Test Code: 6865 Description: >890-gene panel designed to identify causes of seizures primarily with neonatal to childhood onset. Genes included are associated with epilepsy-only disorders, syndromic conditions in which seizures have been reported, as well as treatable metabolic conditions that can include seizures when undiagnosed and/or untreated. Genes: View all >890 genes
Test Name:NeurodevelopmentNext Test Code: 6861 Description: 202-gene panel including genes accounting for >60% of patients1 identified to have a genetic cause for a neurodevelopmental disorder including developmental delay, intellectual disability, and/or autism spectrum disorders. Genes: View all 202 genes
Test Name:NeurodevelopmentNext-Expanded Test Code: 6860 Description: >1,400-gene panel including genes with moderate clinical validity and above that are associated with neonatal to childhood onset developmental delay, seizures, intellectual disability, developmental regression, and/or autism spectrum disorders. Genes: View all >1400 genes
Updated Tests
Test Name: AutismNext® New Test Code: 6863 TAT: 2-4 weeks Description:Now 72-gene panel including genes associated with non-syndromic autism and/or intellectual disability. New/Removed Genes: Added 48 genes:ACSL4, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD3, CIC, CTNNB1, CTNND2, DLL1, EHMT1, EIF3F, ELP2, FOXP2, FRMPD4, GABRB3, GRIA2, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MED13, OPHN1, PAK3, PHIP, RORB, SETBP1, SETD2, SETD5, SHANK2, SYN1, TANC2, TCF20, TCF7L2, TRIP12, UBE2A, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292
Removed 24 genes:ACSL4, AFF2, ANK2, ASH1L, BRWD3, CAMK2A, CAMK2B, CC2D1A, CELF4, CHAMP1, CHD3, CIC, CTNNB1, CTNND2, DLL1, EHMT1, EIF3F, ELP2, FOXP2, FRMPD4, GABRB3, GRIA2, HECW2, KDM5C, KMT2C, KMT5B, MAGEL2, MAOA, MED13, OPHN1, PAK3, PHIP, RORB, SETBP1, SETD2, SETD5, SHANK2, SYN1, TANC2, TCF20, TCF7L2, TRIP12, UBE2A, WDFY3, YY1, ZDHHC9, ZMIZ1, ZNF292
Test Name: CustomNext-Neuro New Test Code:9545 TAT: 2-4 weeks Description: Updated, customizable panel that allows providers to select up to 500 genes associated with intellectual disability, autism spectrum disorders, and/or epilepsy to fit the needs of their patient New/Removed Genes: Choose from any of the >1,400 genes on our neuro menu. Refer to Neurodevelopment-Expanded for the complete list of available genes.
Test Name: EpiRapid® New Test Code: 6862 TAT: 10-14 days Description: Now 22 genes associated with epilepsy that may have immediate implications for seizure management. New/Removed Genes: Added 6 genes: AMT, DDC, GLDC, SCN2A, SLC19A3, SLC6A8
Test Name: EpilepsyNext® Test Code: 6864 TAT: 2-4 weeks Description: Now 124-gene panel including 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. Genes on this panel may also have medical management implications. New/Removed Genes: Added 28 genes: AMT, ANKRD11, ASNS, ATP1A3, BRAT1, CACNA1E, COL4A1, DDC, EHMT1, FOXP1, GLDC, H3F3A, KCNB1, KCNH1, MBD5, MOCS1, MOCS2, NGLY1, PACS1, PHGDH, RHOBTB2, SATB2, SCN3A, SLC19A3, SLC6A8, ST3GAL5, TRIO, TUBA1A
Removed 4 genes: CRH, NRXN1, ST3GAL3, SYN1
Retired Tests
Test Name: CdLSNext Test Code: 7040 Suggested Replacement/Alternative Panel(s):NeurodevelopmentNext or CustomNext-Neuro
Test Name: EpiFirst-Fever® Test Code: 7011 Suggested Replacement/Alternative Panel(s): EpilepsyNext
Test Name: EpiFirst-IS® Test Code: 7013 Suggested Replacement/Alternative Panel(s): EpilepsyNext
Test Name: EpiFirst-Focal® Test Code: 7017 Suggested Replacement/Alternative Panel(s): EpilepsyNext
Test Name: IDNext® Test Code: 7027 Suggested Replacement/Alternative Panel(s):For patients with non-syndromic autism or intellectual disability: AutismNext®
For patients with syndromic autism or intellectual disability: NeurodevelopmentNext™
Test Name: Neurodevelopment-Expanded® Test Code: 7028 Suggested Replacement/Alternative Panel(s): NeurodevelopmentNext

Technology Update

Ambry Genetics® neurology panels have been transitioned to whole exome capture with targeted analysis of clinically relevant gene lists. Exome sequencing covers >98% of mutations identified on next generation sequencing panels.2 Gross deletion/duplication analysis is included for all genes with sufficient coverage. This technology transition enables routine updates based on proactive review of the current literature and Ambry’s peer reviewed clinical validity scheme to ensure inclusion of the most up-to-date disease-associated genes.3 Additionally, Ambry will now continually review data for patients who have been tested with our neurology panels for potential mutations in newly added genes and proactively issue reclassification reports, as applicable.

Technology Update
Methodology Neuro Panels before August 31, 2020: NGS with bait capture New Neuro Panels (Whole Exome Capture): NGS with bait capture
SNV Coverage Neuro Panels before August 31, 2020: 99.9% New Neuro Panels (Whole Exome Capture): 99.7%2
Del/Dup Coverage Neuro Panels before August 31, 2020: 99.9% New Neuro Panels (Whole Exome Capture): Varies by gene (Ask your Ambry Genomic Science Liaison for details)
Gene Updates Neuro Panels before August 31, 2020: Annually or less frequently New Neuro Panels (Whole Exome Capture): Quarterly
Panel Size Neuro Panels before August 31, 2020: Limited New Neuro Panels (Whole Exome Capture): Up to 20,000 genes
Patient-For-Life Program Neuro Panels before August 31, 2020: Proactive variant level reclassifications for previously reported variants New Neuro Panels (Whole Exome Capture): Variant and gene level reclassifications for previously reported variants and newly characterized genes3
VUS Reporting Neuro Panels before August 31, 2020: All VUS reported for each patient New Neuro Panels (Whole Exome Capture): Opt-in at discretion of ordering provider


References:

  1. Ambry Genetics, internal data on file
  2. LaDuca H, Farwell KD, Vuong H, et al., 2017. PLoS ONE 12(2):e0170843
  3. Smith ED, Radtke K, Rossi M, et al. 2017. Human Mutation 38(5):600-608

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DISCLAIMER: THIS BLOG DOES NOT PROVIDE MEDICAL ADVICE

The information, including but not limited to, text, graphics, images and other material contained on this blog are for informational purposes only. The purpose of this blog is to promote broad understanding and knowledge of various health topics. It is not intended to be a substitute for professional medical advice, diagnosis or treatment. Always seek the advice of your physician or other qualified health care provider with any questions you may have regarding a medical condition or treatment and before undertaking a new health care regimen, and never disregard professional medical advice or delay in seeking it because of something you have read on this blog. Ambry Genetics Corporation does not recommend or endorse any specific tests, physicians, products, procedures, opinions or other information that may be mentioned on this blog. Reliance on any information appearing on this blog is solely at your own risk.

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