PREVENTIVE SCREENING FOR METABOLIC DISORDERS

Why is Preventive Screening for Metabolic Disorders useful?
A Preventive Screening for Metabolic Disorders is a blood test based on Tandem MS technology (mass spectrometry) that allows very quick detection of many metabolic disorders simultaneously. It helps with early pre-symptomatic newborn diagnosis and therefore fast treatment and therapy. It also detects disease carriers that will never develop the disease but may transmit it to their descendants.

What diseases or groups of diseases can be detected?
The program detects 45 diseases such amino acid, organic aciduria and disorders, fatty acid oxidation disorders. Where there is suspicion, a final diagnosis is made after special additional examinations.

How will I learn the results?
The scientific team that performs the screenings in collaboration with REA Maternity Hospital, will mail the results a week after the sample is taken.

How and when is the sample taken?
At 2-3 days old, before leaving the Clinic, we take a few drops of blood from the baby’s heel using the special Guthrie test card. This is done when blood is taken for regular screening for 4 metabolic disorders (phenylketonuria, congenital hypothyroidism, galactosemia and glucose-6-phosphate dehydrogenase deficiency - G6PD), under the corresponding national screening program.

Is there treatment for these disorders?
Congenital disorders are controlled and treated symptomatically and prompt diagnosis will allow the best possible development with respect to medical science possibilities available each time.

Is there a possibility that the screening will have to be repeated?
Re-screening is rarely necessary. If the sample in unsuitable or the result doubtful, you will be notified as soon as possible so we can take a new sample.

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