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This laboratory facilitates the diagnosis of rare genetic diseases impacting the central nervous system and skeletal muscle functions.

The tests:

  1. Protein 14-3-3 in cerebrospinal fluid to detect Creutzfeldt-Jacob disease
  2. TAU protein in cerebrospinal fluid to detect Alzheimer`s disease
  3. The defective prion protein in urine to detect Creutzfeldt-Jacob disease
  4. Mutation in the TAU protein (P301S) to detect Parkinson’s-related dementia
  5. Glycogen branching enzyme mutation (Y329S) to detect glycogen storage disease
  6. Aldehyde dehydrogenas enzymemutation (C682T) to detect Svegren-Larsen disease
  7. Transseritin protein mutation (Y77S) to detect ameloid disease
  8. Prion protein mutation (P102L) to detect Gerstmann`s Syndrome
  9. Prion protein mutations (E200K, D178N) to detect familial Creutzfeldt-Jacob disease  
  10. isperlin protein mutation to detect muscular atrophy disease (Limb-Girdal)
  11. CD45 protein mutation to detect hereditary multiple sclerosis.