Clarity for unexplained neurological symptoms
When symptoms such as muscle weakness, unsteady walking, poor limb coordination, cognitive changes, sudden behavioural changes or developmental delay remain unexplained, genetic testing may help doctors look for hereditary clues.
Rare diseases are individually uncommon but collectively significant. There are an estimated 5,000-8,000 known rare diseases worldwide; about 15% are neurodegenerative, and around 1 in 67 people in Hong Kong is affected by a rare disease.
When It May Be Considered
Neurodegeneration refers to the gradual loss of neuronal structure or function. It can be involved in conditions such as ALS, Parkinson’s disease, Alzheimer’s disease and Huntington’s disease.
Rare diseases are diverse and symptoms often overlap, making clinical diagnosis difficult. Delayed diagnosis may mean missed opportunities for disease control. Genetic testing can shorten the search for a diagnosis from many years to weeks and support follow-up, management and family risk discussion.
Testing Scope
- Comprehensive neurological genetic testing: covers 34,484 neurological genomic regions, 3,317 neurodegenerative disease-related genes and 420 neurodegenerative diseases.
- Targeted testing may include repeat expansion testing for spinocerebellar ataxia SCA types 1, 2, 3, 6 and 7.
- Myopathy genetic testing: for symptoms suggesting muscle disease, covering 108 myopathy-related genes.
- Alzheimer’s disease-related testing: APP, PSEN1, PSEN2, APOE, TREM2 and MAPT may be tested, with a single APOE option also available.
- Technical information indicates DNA sequencing 99.9%, SNP / indel variant calling >99%, variant annotation 100%, and GenQA / UK NEQAS external quality assurance.
Enquire or Book
Contact the Well Clinic team to discuss whether this test may be suitable for you or your family.
Contact Us
WhatsApp / WeChat: +852 5292 0089
Address: Room B, 24/F, Lee Tung Building, 9 Li Yuen Street East, Central, Hong Kong