«ALMASS Neo» reagent kit

«AL­MASS Neo» re­agent kit for the de­tec­tion of new­born meta­bol­ic dis­orders by HPLC-MS/MS. «AL­MASS Neo» re­agent kit is de­signed for quant­it­at­ive de­term­in­a­tion of amino acids, acyl­car­nit­ines and ad­en­osine in new­borns’ peri­pher­al blood samples on stand­ard pa­per test blanks by tan­dem mass spec­tro­metry without de­riv­at­iz­a­tion for the pur­pose of new­borns screen­ing for early de­tec­tion of meta­bol­ic dis­orders.

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.

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.