Galactose-1-Phosphate (EDTA blood (hemolysate) (frozen))
| Testcode: | E_GAL1P |
| Specimens: | 1 ml EDTA blood (hemolysate) (frozen) |
| Preanalytics/Notes: | Galactose-1-phosphate (haemolysate): Producing haemolysate: Wash 1 ml EDTA blood 3 x with approx. 5 ml physiological saline solution, then mix 0.6 ml of erythrocyte sediment with the same amount of distilled water, freeze and dispatch frozen. |
| Method: | Liquid chromatography-tandem mass spectr |
| Dimension: | mg/dl |
| Set-up: | on demand |
| Duration: | 5 days |
| Indication/Significance: |
|
| Interpretation: |
Elevated values for free more… Elevated values for free galactose or for galactose-1-phosphate as well as low enzyme activity are consistent with a clinically manifested galactosaemia. The activitiy of galactose-1-phosphate uridyltransferase in patients with classical galactosaemia is usually < 2 % of the standard. When fed with milk, a severe liver dysfunction develops by the end of the first week of life as a result of the accumulation of toxic metabolites (galactose-1-phosphate). With a lactose-free diet, the acute symptoms rapidly disappear. In the long-term, however, chronic damage of the CNS and the ovaries may occur despite a permanent lactose-free diet. The cause of this is the endogenous synthesis of galactose. The determination of galactose-1-phosphate in erythrocytes is a control parameter for a good metabolic adjustment. |
sample referred to a partner lab
Reference range / valuation (openclose)
| both sex | ||
|---|---|---|
| from 0 - 17 Years | 0,12 - 0,18 mg/dl | |
| from 18 Years - 120 Years | 0,11 - 0,24 mg/dl | |
Representation of age: "from" refers to the commenced year(s) (month) of age; "until" refers to the completed year(s) (month) of age.
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.