22 March 2019 What is the heel-prick test? Heel prick or early diagnosis testing is a screening test for metabolic diseases. The test is not obligatory, but it is a programme that covers all newborn babies. It can have substantial benefits for the baby and its family if any issues are detected. Why should the heel-prick test be done? Some of the diseases that can be identified by testing the baby's foot are not always immediately noticeable in newborn babies. However, they can cause physical problems, learning difficulties and potentially even death if they are not diagnosed and treated early. Diseases that can be diagnosed by heel-prick testing include: Phenylketonuria; Leukinosis; Citrullinaemia; Tyrosinaemia Type I and Type II; Argininosuccinic aciduria; Organic aciduria; Changes in lipid beta-oxidation; Congenital hypothyroidism. How, when and where is the heel-prick test done? The heel-prick test is carried out with a sample of blood obtained by pricking the baby's heel. The baby's blood for the heel-prick test is collected at maternity units, hospitals or health centres. The heel-prick test should be carried out on all newborn babies between 3 and 6 days of age. When and how will you know the results of the heel-prick test? Parents are contacted directly by the Institute of Medical Genetics only if the results are not normal or if there is a need to repeat the test. This contact is made, on average, when the baby is 12 to 13 days old. If it is necessary to repeat the test , it is very important that this is done as soon as possible. The normal results can be found online at www.diagnosticoprecoce.org around 4 weeks after the sample is taken. In order to gain access, you will have to use the code given to you when the blood sample was taken. In case of doubt, parents can contact the Institute of Medical Genetics at: pe@diagnosticoprecoce.org. At the hospitals and clinics of the Hospital da Luz network, there are paediatric specialists who monitor the health of children and young people. This article was written with the support of physicians and other clinical professionals from the Hospital da Luz network. The content published in the Health Guide is intended for the general public and is provided for informational and educational purposes only. It does not replace individual medical assessment, diagnosis, or personalized clinical advice from a qualified healthcare professional. The content is produced or reviewed by physicians and other healthcare professionals at Hospital da Luz and is based on the knowledge available at the time of publication or the most recent update, as indicated at the beginning of each item.
