GenomeScan® Neuro-GBA1Screen

Patient-specific. High-confidence. Meaningful results.​
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What is GenomeScan Neuro-GBA1Screen?

Neuro‑GBA1Screen is a specialised sequencing solution engineered to accurately resolve the complex GBA1 gene, the strongest genetic contributor to Parkinson’s disease and a key driver of Gaucher disease biology. The solution combines an optimized laboratory workflow with advanced bioinformatic filtering to detect single‑nucleotide variants (SNVs), insertions and deletions (indels), and recombinant alleles that are frequently missed due to the gene’s 98% sequence homology with its pseudogene GBAP1. Validated for genomic DNA (gDNA), the workflow delivers precise and reproducible results with optional in‑depth data analysis. Neuro‑GBA1Screen supports neurodegeneration research, lysosomal pathway studies, and variant‑informed development programs.​​

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Sample type required

  • Saliva
  • Whole Blood
  • Isolated gDNA

Refer to the Sample Submission Guide for concentrations

Key Documents

Service Specification Sheet

Sample Submission Guide

Enabling reliable GBA1 analysis in clinical trials.

Genetic variation in GBA1 is increasingly important in neurodegenerative clinical research, particularly in Parkinson’s disease, where it influences disease risk, progression, and therapeutic response. Consequently, GBA1 status is often incorporated into clinical trials to support patient eligibility, stratification, and exploratory biomarker strategies.

Accurate analysis of GBA1 remains challenging due to its high sequence homology with the pseudogene GBAP1, which can interfere with read alignment and variant calling using conventional sequencing approaches. These challenges may affect data quality and patient classification in clinical trial settings.

Neuro‑GBA1Screen is designed to address this complexity in clinical and translational research. By integrating an optimized sequencing workflow with specialized bioinformatic filtering, the solution enables reliable detection of clinically relevant GBA1 variant classes, supporting robust genetic insights throughout the clinical trial lifecycle.

Why GenomeScan® Neuro‑GBA1Screen is the smart choice for your Clinical Trial​?​

Purpose‑built for the most challenging neurodegenerative gene​

Neuro‑GBA1Screen is engineered specifically to overcome the GBA1 gene’s complexity and its 98% sequence homology with GBAP1, ensuring accurate variant detection where standard workflows routinely fail.​

High‑resolution detection of all clinically relevant variant types​​​

The workflow confidently identifies SNVs, indels and recombinant alleles essential for patient eligibility, stratification, and targeted trial design.​

Validated workflow for clinical and translational research

The assay is validated for high‑quality gDNA and delivers reliable, reproducible performance, supporting a wide range of clinical and translational study designs without compromising analytical integrity.​

Advanced bioinformatics for confident interpretation​

A validated analysis pipeline filters out pseudogene interference, aligns reads accurately, and provides in‑depth variant annotation, delivering trustworthy insights for clinical programs.​

Workflow: From Sample to Action

An end‑to‑end sequencing process designed for accuracy, reliability, and high‑confidence GBA1 variant detection.

​Neuro‑GBA1Screen delivers high‑quality GBA1 results through a robust gDNA‑based workflow, from sample intake to final data reporting. Following gDNA isolation, each step of the process is monitored through multiple quality control checkpoints to ensure sample integrity and data reliability. Sequencing is performed on Illumina platforms, generating high‑quality FASTQ files (Q30 >80%). Data analysis applies a standardized pipeline that effectively removes pseudogene interference and provides clear, in‑depth variant annotation, enabling confident interpretation for clinical and translational research use.

How does GenomeScan® Neuro‑GBA1Screen support your therapeutic and development programs?​

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Small‑Molecule Chaperone & GCase Enhancer Programs

Neuro‑GBA1Screen identifies GBA1 variant carriers likely to benefit from GCase‑boosting therapies by accurately detecting key genetic variants.

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Lysosomal Pathway Drug Development

Neuro‑GBA1Screen reveals lysosomal‑impacting variants, helping align genetic dysfunction with pathway-specific drug mechanisms and refine target‑engagement strategies.

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α‑Synuclein & Parkinson’s Disease Therapeutic Programs

Neuro‑GBA1Screen reveals GBA1‑related mechanisms tied to α‑synuclein accumulation and neuronal stress.

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Gene Therapy Platforms Targeting GBA1 or GCase Biology

Neuro‑GBA1Screen delivers precise genotype data to support donor selection, genetic baseline definition, and monitoring of variant‑specific therapeutic effects.

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iPSC & Stem‑Cell‑Derived Neuron Model Development

Precise GBA1 variant characterization strengthens patient‑derived models for lysosomal and α‑synuclein research and drug-response phenotypes.

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Neuroscience Discovery & Translational Research Units

Early‑stage neurodegeneration research with a platform that uncovers variant‑driven changes in lysosomal pathways, sphingolipid metabolism, and neuronal health.

Service Specifications Sheet

We have summarized key information about our Neuro-GBA1Screen service into a service specification sheet.

Download sheet

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Contact us today!

Fill out the form below or reach out directly to our specialists at info@genomescan.nl — we’ll get back to you shortly to discuss how we can support your project.​