NeuroCheck+
The Comprehensive Neurology Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 150 genes associated with neurology risk.
Simple Buccal Swab
Neurological disorders, including hereditary conditions and primary brain tumors, present diagnostic and therapeutic challenges requiring precise genetic insight. Neurogenetic Testing is an advanced molecular diagnostic panel designed to identify clinically significant genetic variants associated with neurological diseases, hereditary tumor syndromes (e.g., neurofibromatosis), and malignancies affecting the central nervous system (CNS). This panel supports clinicians in diagnosis, risk stratification, treatment planning, and surveillance of affected or at-risk patients.
Neurogenetic Testing evaluates 150 carefully selected genes known to contribute to the pathogenesis, progression, and therapeutic response of neurological disorders and brain tumors. By providing a comprehensive genomic assessment, this test supports early identification of hereditary syndromes, informs personalized therapeutic strategies, and assists in proactive patient management.
Genetic predisposition and acquired mutations play a critical role in many neurological diseases and CNS tumors. Comprehensive genetic profiling enhances diagnostic accuracy, enables risk stratification, and aids in therapy selection, particularly in conditions where targeted therapies or specialized surveillance protocols are appropriate.
This test offers particular value in:
* Differentiating hereditary versus sporadic neurological disorders.
* Identifying germline mutations associated with syndromes like neurofibromatosis.
* Uncovering therapeutic targets in brain tumors (e.g., gliomas, medulloblastomas).
* Offering family members actionable information for genetic counseling.
Genes Covered: 150 genes associated with neurological disorders, hereditary tumor syndromes, and brain tumors.
Turnaround Time: 10 calendar days from sample receipt.
Coverage: >98% of targeted regions at >20x depth and 300x cycles, ensuring high-confidence variant detection.
Sample Types: Buccal Swab (for germline analysis)
Interpretation & Reporting: In association with Fabric Clinical, a CLIA-certified (CLIA ID: 45D2281059) and CAP-accredited (CAP ID:9619501) laboratory located in Lubbock, Texas. Reports include classification of variants (e.g., pathogenic, likely pathogenic, VUS) with clinical correlation, relevant literature, and guideline-based recommendations.
* Adults aged 18 and older with a personal or family history of neurological disorders.
* Patients diagnosed with primary brain tumors, including gliomas, meningiomas, medulloblastomas, and others.
* Individuals diagnosed with or suspected of having neurofibromatosis type 1 (NF1) or neurofibromatosis type 2 (NF2).
* Patients who may benefit from targeted therapies based on their genetic profile, particularly in cases of aggressive or recurrent brain tumors.
* Individuals with atypical neurological presentations where a genetic cause is suspected.
* Identification of pathogenic variants associated with inherited neurological syndromes.
* Detection of somatic mutations relevant to brain tumor classification and prognosis.
* Identification of actionable mutations linked to FDA-approved therapies or investigational drugs.
* Guidance for selecting therapies targeting specific genetic alterations(e.g., BRAF inhibitors for BRAF-mutated gliomas).
* Identification of hereditary cancer syndromes, informing appropriate screening for at-risk family members.
* Facilitation of genetic counseling and predictive testing for family members when pathogenic germline mutations are detected.
* Development of personalized surveillance plans for patients with hereditary predisposition to neurological tumors.
* Monitoring for clonal evolution in brain tumors through optional repeat testing at disease progression.
* Variant classification (pathogenic, likely pathogenic, VUS, benign).
* Clinical relevance, including associated conditions and therapeutic implications.
* Literature references and clinical guideline alignment (e.g., NCCN,ACMG).
* Recommendations for follow-up testing, imaging, and/or referral to specialists (e.g., neuro-oncology, genetics).
Neurogenetic Testing serves as an invaluable tool for neurologists, oncologists, genetic counselors, and multidisciplinary teams involved in the care of patients with complex neurological diseases and brain tumors. By integrating high-quality genomic data into diagnostic and treatment workflows, clinicians can enhance diagnostic accuracy, personalize therapeutic approaches, and provide more effective care for patients and families navigating these challenging conditions.
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The Comprehensive Neurology Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 150 genes associated with neurological disorder risk. Targeted regions for this panel include the coding exons and 10bp intronic sequences immediate to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology. Data is aligned using human genome build GRCh37.Variant interpretation is performed according to current American College ofMedical Genetics and Genomics (ACMG) professional guidelines for the interpretation of germline sequence variants using Fabric EnterpriseTM Pipeline6.6.15. Variant interpretation and reporting are performed by Fabric Clinical(CLIA ID: 45D2281059 and CAP ID: 9619501)), located at 6901 Quaker Avenue,Suite A, Lubbock, Texas, 79413. The following quality filters are applied toall variants: quality.
ACADM, APOE, BCKDHA, BCKDHB, COQ2, COX10, FANCC, FUS, GBA,GBE1 , GJB1, HBB, IKBKAP, MCOLN1, PLCG2, ARDBP, TBP, APP, ASPA, BCS1L, BLM, BSCL2, C10orf2, DGUOK, DHCR7, ERBB4, G6PC, GAA,GALT, HEXA, LRRK2, MPV17, PRNP, PSEN1, PSEN2, REEP1, SCO1, SCO2, SOD1, SPAST,SUCLA2, ARSA, ATM, ATXN2, GRN, MFN2, MPZ, NPC1, OPA1, OPTN, PAH,PDSS2, POLG, POLG2, RRM2B, SETX, SLC9A6, SPG11, SPTLC1, SUCLG1, TAZ, TK2, TYMP,ANG, ARX, ATP7B, EHMT1, EZH2, FOXG1, GABRG2, GAMT, KDM5C, MED12, MTHFR, NLGN3,PIK3CA, PTEN, SLC2A1, SLC6A8, THAP1, ADNP, APTX, ATP1A2, CC2D1A, CHD2,COL4A3BP, CSTB, DPYD, EN2, FMR1, FOXP1, FXN, GCH1, L1CAM, MAPT, NDP, NDUFA1,NLGN4X, NTRK1, NTRK2, PINK1, PMP22, SCN1B, SLC16A2, SLC25A4, STXBP1, TCF4, TH,TOR1A, TPP1, TSC2, TTR, ALDH7A1, BCL11A, C12orf4, CACNA1A, CACNA1C, CDKL5,CNTN6, COL4A1, CSNK2A1, CTNND2, FBXO11, GATM, GRIN2A, KCNQ2, MBOAT7, MECP2, NOTCH3, NSD1, PCDH19, PDHA1, PRRT2, SCN1A, SCN2A, SCN8A, SYNGAP1,TSC1, ZEB2, ASXL1, ATN1, EGR2, HSPB1, PDGFB, UBA1, FTSJ1, SGCE, CNOT3, GARS,PNKD
This test aims to detect all clinically relevant variants within the coding regions of the genes evaluated. Pathogenic and likely pathogenic variants detected in these genes should be confirmed by orthogonal methods.Detected genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report. Homopolymer regions and regions outside of the coding regions cannot be captured by the standard NGS target enrichment protocols. At this time, the assay does not detect large deletions and duplications. This analysis also cannot detect pathogenic variants within regions that were not analyzed (e.g., introns, promoter and enhancer regions, long repeat regions, and mitochondrial sequence). This assay is not designed to detect mosaicism, complex gene rearrangements or genomic aneuploidy events. It is important to understand that there may be variants in these genes undetectable using current technology. Additionally, there may be genes associated with neurological pathology whose clinical association has not yet been definitively established. The test may therefore not detect all variants associated with neurological pathology. The interpretation of variants is based on our current understanding of the genes in this panel and is based on current ACMG professional guidelines for the interpretation of germline sequence variants.Interpretations may change over time as more information about the genes in this panel becomes available. Qualified healthcare providers should be aware that future reclassifications of genetic variants can occur as ACMG guidelines are updated. Factors influencing the quantity and quality of extracted DNA include but are not limited to, collection technique, the amount of buccal epithelial cells obtained, the patient’s oral hygiene, and the presence of dietary ormicrobial sources of nucleic acids and nucleases, as well as other interfering substances and matrix-dependent influences. PCR inhibitors, extraneous DNA, and nucleic acid degrading enzymes may adversely affect assay results.
This laboratory-developed test (LDT) was developed, and its performance characteristics were determined by PreCheck Health Services, Inc.This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020and CAP ID: 9101993) which is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high-complexity testing. This assay has not been cleared or approved by the U.S. Food and DrugAdministration (FDA). Clearance or approval by the FDA is not required for the clinical use of this analytically and clinically validated laboratory-developed test. This assay has been developed for clinical purposes and it should not be regarded as investigational or for research.
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