The Comprehensive Neurology Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 153 genes associated with neurological risk.
Simple buccal swab.
Price
$85.00
USD
One of our agents will contact you
Neurogenetic testing evaluates 153 carefully selected genes that contribute to the pathogenesis, progression, and therapeutic response of neurological disorders and brain tumors. By providing a comprehensive genomic assessment, this test enables the early identification of hereditary syndromes, supports personalized therapeutic strategies, and facilitates proactive patient management.
Genetic Predisposition
This test offers particular value in:
Differentiating hereditary neurological disorders from sporadic cases.
Identifying germline mutations associated with syndromes such as neurofibromatosis.
Discovering therapeutic targets in brain tumors (e.g., gliomas, medulloblastomas).
Providing useful information to family members for genetic counseling.
Covered Genes: 150 genes associated with neurological disorders, hereditary tumor syndromes, and brain tumors.
Turnaround Time: 10 calendar days from sample receipt.
Coverage: >98% of target regions at >20x depth and 300x sequencing cycles, ensuring high-confidence variant detection.
Sample Type: Buccal swab (for germline analysis).
Interpretation and Reporting: Conducted in collaboration with Fabric Clinical, a CLIA-certified (CLIA ID: 45D2281059) and CAP-accredited (CAP ID: 9619501) laboratory located in Lubbock, Texas. Reports include variant classification (e.g., pathogenic, likely pathogenic, VUS) with clinical correlation, relevant literature, and recommendations based on clinical guidelines.
This test is particularly suitable for:
Adults over 18 years of age 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.
Diagnostic Accuracy
Identification of pathogenic variants associated with hereditary neurological syndromes.
Detection of somatic mutations relevant for the classification and prognosis of brain tumors.
Personalized Treatment and Targeted Therapies
Identification of actionable mutations linked to FDA-approved therapies or investigational drugs.
Guidance for selecting targeted therapies based on specific genetic alterations (e.g., BRAF inhibitors for BRAF-mutated gliomas).
Risk Assessment and Family Counseling
Identification of hereditary cancer syndromes, guiding screening for at-risk family members.
Facilitation of genetic counseling and predictive testing for family members when pathogenic germline mutations are detected.
Surveillance and Longitudinal Care
Development of personalized surveillance plans for patients with hereditary predisposition to neurological tumors.
Monitoring of clonal evolution in brain tumors through optional repeat testing during disease progression.
Neurogenetic testing is an invaluable tool for neurologists, oncologists, genetic counselors, and multidisciplinary teams caring for patients with complex neurological diseases and brain tumors. By integrating high-quality genomic data into diagnostic and treatment processes, clinicians can improve diagnostic precision, personalize therapeutic approaches, and provide more effective care for patients and their families facing these complex conditions.
The Comprehensive Neurology Panel is designed to detect single nucleotide variants (SNVs) and small insertions and deletions in 150 genes associated with the risk of neurological disorders. The target regions of this panel include coding exons and the 10 bp intronic sequences immediately adjacent to each exon–intron boundary of every coding exon in these genes.
Workflow and Technology:
Patient DNA is prepared using targeted hybrid capture, assigned a unique index, and sequenced using Illumina’s sequencing-by-synthesis (SBS) technology. Data are aligned to the human genome build GRCh37.
Variant Interpretation:
Variant interpretation is performed according to the current professional guidelines of the American College of Medical Genetics and Genomics (ACMG) for germline sequence variant classification, using the Fabric Enterprise™ Pipeline 6.6.15. Interpretation and reporting are conducted by Fabric Clinical (CLIA ID: 45D2281059, CAP ID: 9619501), located at 6901 Quaker Avenue, Suite A, Lubbock, Texas, 79413.
Quality Filters Applied:
Variant quality <500
Allelic balance <0.3
Coverage <10x
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, PRKN, SNCA, PARK7
This test is designed to detect all clinically relevant variants within the coding regions of the evaluated genes. Pathogenic and likely pathogenic variants identified in these genes must be confirmed by orthogonal methods. Genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report.
Technical Limitations:
Homopolymeric regions and areas outside coding regions cannot be captured using standard NGS target enrichment protocols. At this time, the assay does not detect large deletions or duplications. It also cannot identify pathogenic variants located in regions not analyzed (e.g., introns, promoter and enhancer regions, long repeats, or mitochondrial sequences).
This assay is not designed to detect mosaicism, complex genetic rearrangements, or genomic aneuploidy events. It is important to understand that there may be variants in these genes that remain undetectable with current technology. Additionally, there may be genes associated with neurological pathology whose clinical relevance has not yet been definitively established. Therefore, the test may not detect all variants associated with neurological pathology.
Variant Interpretation:
Variant interpretation is based on current knowledge of the genes in this panel and the latest ACMG professional guidelines for germline sequence variant interpretation. Interpretations may change over time as more information becomes available.
Qualified healthcare professionals should consider that future reclassification of genetic variants may occur as ACMG guidelines are updated. Factors influencing the quantity and quality of extracted DNA include, but are not limited to, collection technique, amount of buccal epithelial cells obtained, patient oral hygiene, and the presence of dietary or microbial nucleic acids and nucleases, as well as other interfering substances or matrix-dependent effects.
PCR inhibitors, foreign DNA, and nuclease activity may negatively affect assay performance and results.
This laboratory-developed test (LDT) was designed and its performance characteristics were determined by PreCheck Health Services, Inc. The test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID: 9101993), a laboratory 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 Drug Administration (FDA). FDA clearance or approval is not required for the clinical use of this analytically and clinically validated laboratory test. This assay has been developed for clinical purposes only and should not be considered for research use.
