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Neurodegenerative Disease

CoGenesis® Neuro

Comprehensive genomic panel for unexplained neurological disorders

Turnaround Time~4 working weeks
🧪Specimen TypeBlood / Saliva / Buccal Swab
🔬MethodNext Generation Sequencing (NGS)
CoGenesis® Neuro

CoGenesis® Neuro is a genetic test that offers comprehensive phenotype and genetic analysis to help ressolve unexplained neurological symptoms. It identifies genetic variants linked to rare neurodegenerative and neuromuscular conditions, enabling earlier diagnosis, personalised disease management, and improved patient care.

  • Patients with unexplained neurological symptoms (ataxia, spastic gait, tremor, progressive weakness) where standard investigations have been inconclusive.
  • Detecting genetic variants associated with rare neurological and neuromuscular disorders
  • Supporting diagnosis in patients with unexplained neurological symptoms
  • Guiding treatment decisions and family risk assessment
⚠ Not intended for:
  • Diagnosing neurological conditions caused by non‑genetic factors (e.g., trauma, infection, or environmental causes)
  • Serving as a stand‑alone diagnostic tool without clinical correlation

10 sub-panels included:

Step / TestAccuracyNotes
Variant calling – SNP>99.9%* Passed GenQA/UK NEQAS external quality assurance
Variant calling – Indel>99%* Passed GenQA/UK NEQAS external quality assurance
Specimen Type: BloodSalivaBuccal Swab
Preferred Collection:

4mL Peripheral blood (EDTA), 2mL saliva, or buccal swab

Preferred sample type:

  • 4mL Blood (EDTA tube),
  • Codex-provided buccal swabs (4 swabs)
  • Codex-provided saliva collection kit (2mL)

Saliva or buccal swab sample collection: Follow the enclosed instructions; do not eat, drink, or smoke for 30 minutes before collection.

Rejection Criteria:
  • Insufficient DNA quantity or poor DNA quality
  • Improperly labeled or contaminated samples
  • Degraded specimens due to incorrect storage or transport
  • Non-human samples or inappropriate specimen types
Shipping Instructions:

Samples must be collected and submitted by a licensed healthcare professional.

  • Keep Blood samples at 4–8°C after collection; avoid freezing, deliver within 48 hours of collection.
  • Saliva or buccal swabs are stability in room temperature for up to 7 days. Address: Unit 220, 2/F, Building 16W, HKSTP, Pak Shek Kok, NT, Hong Kong. Tel: +852 3008 2560
  • Results may identify pathogenic, likely pathogenic, or variants of uncertain significance (VUS).
  • Positive findings can inform risk‑reducing strategies and treatment options.
  • Genetic counseling is recommended to help families understand implications.

Neurological disorders often present with overlapping or nonspecific symptoms, making diagnosis challenging. Many rare neurodegenerative and neuromuscular conditions have a genetic basis, including mitochondrial disorders, leukodystrophies, hereditary ataxias, and spinocerebellar ataxia. Genetic testing provides clarity by identifying pathogenic variants that explain disease mechanisms. Early and accurate diagnosis allows clinicians to tailor surveillance, initiate personalised disease management, and provide genetic counseling for families. Integrating genetic insights into neurology improves patient outcomes and reduces the diagnostic odyssey. As of 2025, there are over 600 approved orphan drugs worldwide, offering hope for rare disease treatment.