Recoltare Gratuită
Metodă de execuție
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Determinari biochimice+genetice
Recipient recoltare
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Vacutainer cu capac mov (EDTA)
Transport (Temp °C)
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temperatura mediului ambiental (10-25°C)
Acid lipase (Wolman, LIPA), Acidic alpha-glucosidase (Pompe, GAA), Acidic sphingomyelinase (Niemann-Pick Type A and Type B, SMPD1), Alpha-fucosidase (Alpha-fucosidase deficiency, FUCA1), Alpha-galactosidase (Fabry, GLA), Alpha-L-iduronidase (MPS I, IDUA), Alpha-mannosidase (Alpha-mannosidase deficiency, MAN2B1), Alpha-N-acetylgalactosaminidase (Schindler/Kanzaki, NAGA), Arylsulfatase B (MPS VI, ARSB), Beta-galactosidase (MPS IVB, GLB1), Beta-glucocerebrosidase and Chitotriosidase (Gaucher, GBA), Beta-glucuronidase (MPS VII, GUSB), Beta-hexosaminidase (Tay-Sachs, HEXA), Beta-mannosidase (Beta-mannosidase deficiency, MANBA), Hexosaminidase AB (Sandhoff, HEXA/HEXB), Iduronate-2-sulfatase (MPS II, IDS), N-acetyl-alpha-glucosaminidase (MPS IIIB, NAGLU), N-acetylgalatosamine-6-sulfate-sulfatase (MPS IVA, GALNS), Palmitoyl-protein thioesterase (Neuronal ceroid lipofuscinosis type 1, NCL1, Infantile NCL, Santavuori-Haltia disease, PPT1), Tripeptidyl peptidase (Neuronal ceroid lipofuscinosis type2, NCL2, Late infantile NCL, Jansky-Bielschowsky disease, TPP1)