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15-20 zile lucratoare
Panel enzimatic Sfingolipidoze + testare genetica enzima deficitara (CentoSphingo Enzyme Panel X-TRA)
Recoltare Gratuită
Termen de execuție
Metodă de execuție
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Determinari biochimice si genetice
Material biologic
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sange venos total
Cantitate minimă
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5ml
Recipient recoltare
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Vacutainer cu capac mov (EDTA)
Stabilitatea probei
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Tcamerei, maxim 4 zile
Transport (Temp °C)
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temperatura mediului ambiental (10-25°C)
Acidic sphingomyelinase (Niemann-Pick Type A and Type B, SMPD1), Beta-glucocerebrosidase and Chitotriosidase (Gaucher, GBA), Alpha-galactosidase (Fabry, GLA), Acidic alpha-glucosidase (Pompe, GAA), Beta-hexosaminidase (Tay-Sachs, HEXA), Hexosaminidase AB (Sandhoff, HEXA/HEXB), Alpha-N-acetylgalactosaminidase (Schindler/Kanzaki, NAGA), Acid lipase (Wolman, LIPA) , Alpha-mannosidase (Alpha-mannosidase deficiency, MAN2B1), Beta-mannosidase (Beta-mannosidase deficiency, MANBA), Alpha-fucosidase (Alpha-fucosidase deficiency, FUCA1)
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Panel enzimatic Sfingolipidoze + testare genetica enzima deficitara (CentoSphingo Enzyme Panel X-TRA)
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