The Welsh Government has allocated £1.21m to establish a new laboratory at University Hospital Wales in Cardiff, enabling the newborn screening programme in Wales to expand its capacity.
A separate investment of £529,000 will allow hereditary tyrosinemia type 1 to be added to the nine rare conditions already covered by the All-Wales Newborn Bloodspot Screening Service.
The programme examines a blood sample from every baby born in Wales, with approximately 28,000 infants tested each year.
Conditions currently included in the screening process include cystic fibrosis and congenital hypothyroidism.
Existing facilities cannot accommodate additional tests, while the planned biochemistry laboratory will supply suitable space and infrastructure.
The UK National Screening Committee has recommended screening for hereditary typosinemia type 1.
Evidence is also being considered by the committee regarding possible UK-wide screening for spinal muscular atrophy and severe combined immune deficiency.
The funding for Wales gives the country an opportunity to participate in that assessment and in any subsequent national screening programme.
Early diagnosis can allow treatment to begin sooner, improving a baby’s health and potentially preventing severe disability or death.
Newborn bloodspot screening normally involves a small sample obtained from the baby’s heel, ideally taken between days four and six after birth.
A midwife usually collects the sample as part of routine post-natal care.
Nerys Evans, the deputy minister for public and preventative health, said the laboratory would modernise and future-proof the screening infrastructure.
She added that screening saves lives and that the investment would help Wales respond to future developments and recommendations.
Public Health Wales consultant Dr Sikha de Souza said early detection of serious conditions enables improved outcomes and helps prevent lifelong complications, describing the new facility as a welcome addition.