Huntington’s Disease: Test and Diagnosis

1st order laboratory parameters – obligatory laboratory tests.

  • Molecular genetic testing – analysis of the frequency of base triplet repeats (three consecutive nucleobases of a nucleic acid) cytosine, adenine, and guanine in the gene HTT by PCR (polymerase chain reaction).
  • CSF diagnostics (examination of the nerve water).
  • Small blood count
  • Differential blood count
  • Inflammatory parameters – CRP (C-reactive protein) or BKS (blood cell sedimentation rate).

Laboratory parameters 2nd order – depending on the results of the history, physical examination, etc. – for differential diagnostic clarification.

  • If bone metastases are suspected (due todifferential diagnosis: malignant neoplasia/malignant neoplasms):
    • Alkaline phosphatase (AP) isoenzymes.
    • Ostase
    • Calcium in urine (tumor hypercalcemia (synonym: tumor-induced hypercalcemia, TIH) is one of the most common symptoms in paraneoplastic syndromes).
    • PTHrP (parathyroid hormone-related protein; the constellation with decreased parathyroid hormone (PTH) and increased PTHrP is typical for tumor hypercalcemia)
  • If myocardial infarction (heart attack) is suspected:
    • High-sensitivity cardiac troponin T (hs-cTnT) troponin I (hs-cTnI).
    • Creatine kinase (CK, CK-MB)
    • Lactate dehydrogenase (LDH)