Description
Evartia Newborn Screening Test
Evartia Newborn Screening by Medicover involves taking a cheek swab or buccal swab (DIY home test) to screen 223 genes for inherited genetic conditions and metabolic conditions in newborn babies. Current UK national screening only identifies 9 conditions but in USA they routinely screen for up to 58 conditions. Now this extended screening is available in the UK.
Each year, an estimated 7.9 million babies worldwide are born with birth defects, many of which appear healthy at birth and come from families with no history of the disorder. Many affected babies are not identified until the appearance of severe and often irreversible symptoms later in life. Detecting a disease at an early stage can enable appropriate and timely medical intervention before more serious and sometimes irreversible health issues are caused.
Following birth, an infant will undergo testing called newborn screening. Approximately a week after birth, a blood sample is collected through a heel prick test. The sample is then sent to the NHS laboratory for testing. At the laboratory, several biochemical tests are performed to screen for a select number of serious, inherited metabolic conditions. If these conditions are identified and treated early, a child usually develops normally and lives a healthy life. Unfortunately, if these conditions are not recognized within a very sensitive time window, it may be too late. Once symptoms appear, they are often irreversible and lead to severe health problems or even death. With early detection, physicians and parents have the opportunity to be proactive and change a child’s life forever.
In USA, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) recommends screening for 32 core conditions and 26 secondary conditions as identified by the American College of Medical Genetics (ACMG). Click here to learn more!
Metabolic Conditions are Under Recognised and Under Diagnosed
Traditionally regarded as ‘childhood diseases’, the prevalence of adults with metabolic disorders who are undetected is unknown. Metabolic diseases have a range of symptoms and age of onset, and no specific phenotype. Also, they may have overlapping symptoms with neurologic, psychiatric or cardiovascular disorders. Without treatment, they can get progressively worse, cause acute pain, and chronic, irreversible complications.
The path towards identifying a metabolic disease hasn’t been straightforward. If a patient with a metabolic disease is not identified through newborn screening, due to the metabolic disease not being a part of the diseases tested or due to technological limitations, detection depends on the time of symptom onset. This can be anytime from infancy, childhood, adolescence or adulthood . Often, patients have to undergo lengthy and complicated biochemical or enzymatic testing which includes a variety of specimen types such as blood, urine or sweat. Additionally, invasive biopsies from muscle or cerebrospinal fluid may be needed.
With Evartia, you are one genetic test away from taking informed, accurate, and early decisions on the best clinical management.
Who is the Evartia Newborn Screening Test suitable for:
- Parents in the UK who want a more comprehensive genetic screen for their baby
- Babies in the in the UK who have missed out on regular screening
- Babies from parents in the UK with a family history of inherited disorders or from a population identified as at higher risk for genetic disease
