CoGenesis® Neuro

Refining neurodegeneration diagnoses

Neurodegenerative conditions affect over 400 million people worldwide. In Hong Kong, 1 in 67 people is diagnosed with a neurodegenerative disease. Challenges for rare disease include overlapping symptoms and long diagnostic time. 25% of patients had to wait between 5 to 30 years from early symptoms to confirmatory diagnosis of their diseases1, it takes average 8 years to diagnosis2. And 40% of patients first received a wrong diagnosis1. Our testing can shorten the diagnostic time to just 6 weeks.
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Rare disease is individually rare, yet collectively common


Estimated to have 5,000 to 8,000 known types of rare diseases existing worldwide

15% of the known rare diseases are rare neurodegenerative diseases

In Hong Kong, 1 in 67 people is diagnosed with a neurodegenerative disease3

About CoGenesis® Neuro

Who should consider testing

  • People with a family history of neuro-related conditions, developmental delays, seizures, muscle weakness or gait abnormalities.
  • Patients receiving conventional care but who are experiencing an unexplained worsening of their condition.
  • People with neurological symptoms and an unclear diagnosis.

An early and accurate diagnosis

Our testing can help diagnose neurodegenerative diseases including Parkinson’s disease, Charcot-Marie-Tooth Neuropathy, Epilepsy, Spastic Paraplegia, Spinocerebellar Ataxia and Spinal Muscular Atrophy, among many others.

Full screening of

34,484

neuro-related areas of the genome
Screening for

505

neuro disease genes in one test
Associated with

420

neurodegenerative diseases
Accurate diagnosis in just

6 weeks

Fast and accurate confirmatory diagnosis of disease

By integrating genetic and clinical information, our tests speed up medical diagnosis for unexplained neurological symptoms.

Discover treatment options

Neurodegenerative diseases have a slow rate of progression. Precise, early diagnosis can mean earlier targeted treatments and more effective therapies. As of 2020, over 200 treatments are available for rare diseases.

Plan for your life and your family

You may then identify carriers in your family and make decisions about family planning.

The process

1

Order and receive a saliva collection kit.

2

Register the sample collection tube barcode online, then take a sample.

3

Mail the kit back to Codex’s laboratory for analysis.

4

Results are provided to you securely on the codex website within six weeks from receipt of sample.

Case Study

From unknown diagnosis to effective treatment

A middle-aged patient presented with ataxia and a spastic gait. The diagnosis was unknown.
They had a DNA sample taken for the CoGenesis® Neuro test, which integrated their reported symptoms and detected genetic variants.
Using CoGenesis® Bioinformatics, the patient was successfully diagnosed as having Spastic Paraplegia 11, for which treatment (GSK3 inhibitor) is available.

A high accuracy standard

Steps Accuracy
DNA sequencing 99.9%
Variant calling – SNP >99%*
Variant calling – Indel >99%*
Variant Annotation 100%#

* Passed GenQA/UK NEQAS external quality assurance

# The interpretation of sequencing variants is based on the current understanding of the variants at the time it was observed, which may change over time as more information about the genes becomes available. Not all variants are represented in this report.

All Codex products are available at Hong Kong Health Check (HKHC) Centers. Enjoy a discount on services with a Codex referral letter.

Discover the nearest HKHC centre

Source:

  1. Eurordis – Rare Diseases Europe
  2. Global Genes. RARE Disease Facts. https://globalgenes.org/rare-facts/
  3. Chiu, A.T.G., Chung, C.C.Y., Wong, W.H.S. et al. Healthcare burden of rare diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative datasets. Orphanet J Rare Dis 13, 147 (2018). https://doi.org/10.1186/s13023-018-0892-5

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