The team at a specialist NHS biochemical genetics laboratory in Manchester are supporting the national roll out of a new screening test for babies who have a debilitating rare condition.
Screening for a condition called hereditary tyrosinaemia type 1 (HT1) began nationally on Monday, 29 September, and is now fully underway, with all babies born in England being offered the test. If undetected and untreated, this rare condition can cause issues such as poor weight gain, jaundice, an enlarged liver, bleeding, and bruising, which can lead to liver and kidney damage.
The team at the Willink Biochemical Genetics Laboratory in Saint Mary’s Hospital in conjunction with the Manchester Newborn Screening Laboratory in Laboratory Medicine, analyse more than 60,000 blood spot samples from babies born across Greater Manchester, Lancashire and South Cumbria each year. Together they provide the newborn bloodspot test for nine rare conditions, and the Willink Laboratory will now include testing for HT1 as part of the routine screening panel. Similar arrangements will be in place at other regional newborn screening labs across England.
Teresa Hoi Yee Wu, Consultant Clinical Scientist and Director of Willink Laboratory, said: “Adding this test for HT1 to the screening we already do is great news for families in Greater Manchester and across the region. Early detection means early treatment, so babies with HT1 will not have to wait for symptoms to develop, as would previously have happened. A positive test means that they can get quick access to the medication they need and a special diet, which will significantly reduce the risk of long-term complications and give them healthier lives.”