Newborn Screening
Metabolic Disease Screening is a blood test based on Tandem MS (mass spectrometry ) technology that allows rapid detection of several metabolic diseases at the same time.
Why it is useful
Metabolic Disease Screening is a blood test based on Tandem MS (mass spectrometry) technology that allows rapid detection of several metabolic diseases at the same time. It contributes to the early diagnosis of pre-symptomatic newborns and thus to rapid treatment and cure. In addition, it detects carriers of diseases who will never manifest the disease but can pass it on to their offspring.
What diseases or groups of diseases are detected?
The program detects > 50 diseases involving amino acid disorders, organic aciduria and fatty acid oxidation disorders. In case of suspicion, a definitive diagnosis is made after additional specific tests.
How will I be informed of the results?
One week after the sample is taken, the results are sent by post by the scientific team that carries out the tests in collaboration with the Clinic. In case of delay or other problems, please notify us.
How and when is the sample taken?
At the age of 2-3 days, before leaving the clinic, we take a few drops of blood from the heel of the newborn on a special card , the Guthrie card. This is done at the same time as the blood draw for the standard screening for 4 metabolic diseases (phenylketonuria, congenital hypothyroidism , galactosaemia and G6PD deficiency ) , which is carried out as part of the respective national screening programme.
Is there a cure for these diseases?
The congenital diseases are treated based on symptoms and early diagnosis helps towards the best possible course of the disease, in relation to the evolution of medical science.
Is there a need to repeat the examination?
Revision is rarely needed. In the event the sample is unsuitable or the result is questionable, you will be notified as soon as possible to give a new sample.