Laboratoriumsmedizin
3
5
A
- Acylcarnitine in EDTA plasma
- Acylcarnitine in dired blood spot
- Alpha-Fucosidase
- Alpha-Galactosidase (Ceramidetrihexoside)
- Alpha-Iduronidase
- Alpha-Mannosidase
- Amino acids (liquor /CSF)
- Amino acids (plasma)
- Amino acids (urine)
- Ammonia
- Arylsulfatase A (Sulfatidase)
B
- Beta-Galactocerebrosidase (Galactosylceramidase)
- Beta-Galactosidase (Sulfatidase)
- Beta-Glukosidase (Glucocerebrosidase)
- Beta-Glukuronidase
- Beta-Hexosaminidase A (GM2-Gangliosidose)
- Beta-Hexosaminidase, total (GM2-Gangliosidose)
- Beta-Hydroxybutyrate
- Biotin (Vitamin H) in serum
- Biotinidase
C
- Carnitine (L-carnitine), free
- Carnitine, total
- CDG-Diagnostics (CDG-Transferrin)
- Chitotriosidase (Galactosylceramidase)
F
G
- Galaktitol in urine
- Galactose-1-Phosphate
- Galactose-1-Phosphatee-Uridyltransferase (Gal-1-PUT)
- Bile acids in serum
- Glucose-6-Phosphatee-Dehydrogenase
- Guanidinoacetate
H
K
L
M
- 2-methylacetoacetyl-CoA thiolase deficiency
- Methyl malonic acid in serum
- Methyl malonic acid in urine
- Mucopolysaccharide (Glykosaminoglykane / GAG, total)
O
- Oligosaccharide (Glycosaminoglycans / GAG, total)
- Omega-3-fatty acids
- Omega-6-fatty acids
- Organic acids in urine (quantitative)
- Orotic acid in urine
- Oxalic acid in urine
P
- Phytanic acid
- Pipecolinic acid (CDG-Transferrin) in plasma
- PKU-Profile (Phenylalanine, Tyrosine and Quotient)
- Pterine (Neopterin und Biopterin)
- Purines/pyrimidines in urine
- Pyruvate kinase
S
- Sanfilippo (A-D) test
- Very long chain fatty acids (VLCFA)
- Sterols in serum
- Succinyl-CoA: 3-Ketoacid CoA-Transferase deficiency
- Succinylacetone
V
- Vitamin A
- Vitamin B1 as thiamine pyrophosphate
- Vitamin B12
- Vitamin B2 as flavin dinucleotide (FAD)
- Nicotinamid (Niacin)
- Pantothenic acid, free
- Vitamin B6 as pyridoxal phosphate
- Vitamin D3 (1,25-Dihydroxy Cholecalciferol)
- Vitamin D3 (25-Hydroxy-Cholecalciferol)
- Vitamin E
- Vitamin K1