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How are lysosomal diseases diagnosed?

The diagnostic process is based on 4 pillars:

  1. Detection of enzyme deficiency or defects in another protein.
  2. Which substance is enriched? - Biomarkers.
  3. Which clinical symptoms and findings explain the suspicion?
  4. What genetic changes cause the disease?

Diagnostic services of SphinCS and Lyso gemeinnützige UG

  • You can introduce patients of any age with suspected lysosomal disease.
  • For diagnosis we combine: enzymatics, screening parameters, clinical findings and genetic findings.
  • We carry out lysosomal diagnostics and convey the diagnosis to the patient.
  • We advise doctors and clinics on the implementation of diagnostics.
  • We do research to improve diagnostic processes.

Our cooperation with laboratories

Classic testing in EDTA blood:
Theresienstr. 29, 80333 Munich, Germany

Elegant tests in dry blood (DBS):
ARCHIMED Life Science GmbH
Leberstraße 20/2, 1110 Wien, Austria

SphinCS - Clinical Science for LSD | Laborkooperationen bei SphinCS

Typical pitfalls of diagnostics

  • The enzyme activity is not clearly deficient (<5% of the mean normal value) but also not in the normal range?
  • Does an enzyme activity of “0” prove the diagnosis?
  • The biomarker is positive, but the enzyme activity is normal?
  • The enzyme activity is abnormal, but the biomarker normal?
  • Genetic variant of unclear significance? How do I proceed?
  • Which influencing factors influence a laboratory result? Hemolysis; transport conditions; cold/heat.
  • Which test must be requested? Dry blood test, blood or even skin biopsy?

General recommandations for diagnostics

  • Get help early on from someone who is familiar and experienced with the 4 pillars of lysosomal diagnostics.
  • Use all 4 pillars of diagnostics, a single test is often not effective enough. 
  • Do I have a plan if the diagnosis is confirmed? Regarding: diagnosis, advice, prognosis, initiation of therapy?