Cited from endi.com
Pediatric hematologist Pedro Santiago Borrero, founder and director of the Center of Hereditary Diseases of the MSC, indicated that the new technology will allow an earlier detection of the metabolic diseases, allowing that the newborn to receive treatment faster and effectively to improve its health and quality of life.
The laboratory, that is part of Program of Neonatal Screening of the Center of Hereditary Diseases and was developed to a cost of $428.000, will specialize in identifying disorders of amino acids, acylcarnitines and fatty acids that could cause serious metabolic conditions. Santiago Borrero maintained that the importance of the laboratory is that many of these genetic conditions are controlled with a rigorous and specific diet since the kid is born.
“If untreated, the kid dies during the first months of life or grows up with deficiencies in the development and cerebral damage that sometimes is severe. Thus the person is depending on the family and of highly expensive treatments”, he declared in an official notice.
He emphasized that with the technologies used until now, part of the diagnosis process took weeks and many of the tests were sent to the United States. The new laboratory will begin to work under test in July.
Soon, like with all novel technology, the program will work using pilot samples for several months, to later start complete operations. “We are sure that this technology will help us reduce mortality, improve the health and quality of life of the infants and children affected by genetic metabolic diseases”, said Santiago Borrero, that in the decade of the 70 initiated the pilot studies of genetic diseases in the MSC.
Medical technologist Alfredo Chardón, who manages the laboratory, explained that each newborn in the Island undergoes a test to detect metabolic diseases of genetic origin.
The test is made to a blood sample that is obtained by drawing blood from the baby’s heel. All the samples of the Island are evaluated in the laboratories of the Center of Hereditary Diseases.