«ALMASS Neo» reagent kit

Item code: ALM‑N

«AL­MASS Neo» re­agent kit for the de­tec­tion of Con­gen­it­al Meta­bol­ic Disease by HPLC-MS/MS.

Neonat­al screen­ing is the new­born screen­ing pro­gram for ge­net­ic disorders. Hered­it­ary meta­bol­ic diseases in­volve the quant­it­at­ive ana­lys­is of a num­ber of mark­ers. The pro­ced­ure be­gins in the ma­ter­n­ity hos­pit­al, where five drops of blood are drawn from the new­born, ap­ply­ing them to a spe­ci­al card, which is then dried. This pro­duces a sample – a Dried Blood Spot – which will be sent for fur­th­er ana­lys­is. Ab­nor­mal mark­er ana­lytes will in­dic­ate meta­bol­ic disorders and al­low the iden­ti­fic­a­tion of po­ten­tially sick new­borns. The pan­el of ana­lytes is rep­res­en­ted by amino acids and acyl­car­n­it­ines, with ad­en­osine also ad­ded to the ex­pan­ded panel.

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Screen­ing is not lit­erally an «as­say by which a dia­gnos­is can be made quickly and un­am­bigu­ously». Fur­th­er ex­am­in­a­tions are per­formed by oth­er spe­ci­al­ists, ad­di­tion­al tests are pre­scribed, etc.