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Acylcarnitine profile (dbs) (Other)

Testcode: E_ACYLCP
Specimens: Other
Preanalytics/Notes:

specimen: blood card

At least 2 fully filled circles.

Amino acids (alanine, arginine, aspartic acid, citrulline, glutamic acid, glycine, leucine, methionine, ornithine, phenylalanine, proline, tyrosine, valine) and succinylacetone

Acylcarnitines (e.g., C2-carnitine, C3-carnitine, C4-carnitine, C5-carnitine, C5DC-carnitine, C6-carnitine, C8-carnitine, C10-carnitine, C12-carnitine, C14-carnitine, C16-carnitine, C18-carnitine, etc.) and free carnitine

Method: Tandem mass-spectrometry
Set-up: on demand
Duration: 7 days
Indication/Significance:

As selective screening, when an inborn metabolic disorder is suspected, e.g.

  • developmental delay
  • neurological disorders
  • ketoacidosis
  • hypoglycaemia
  • hyperammonaemia
  • seizures
  • vormitting
  • organomegaly

Monitoring treatment of metabolic diseases.

Interpretation:

Reference range / valuation (openclose)

initial letter


Abrechnung GOÄ

Die Kosten werden für den i. d. R. genutzten 1,15-fachen GOÄ-Satz dargestellt. Wird die Unter­suchung nicht in Ihrem regionalen Labor durch­geführt, erfolgt die Analyse in dem Labor, das im Leistungs­ver­zeich­nis genannt ist. In diesem Fall gilt der dort für die Untersuchung angegebene Preis.