WHAT IS Evartia?
Evartia is a new genetic test for metabolic testing, which screens for genetic mutations in people suspected of having an inherited metabolic disease. Defects in metabolic genes disrupt the actions of the metabolic pathways they are involved in, leading to either toxic accumulation of substances or deficient production of important enzymes and proteins. These can cause a variety of symptoms, that usually manifest shortly after birth or within weeks of birth; but they could also progress slowly over the years and appear in infancy, childhood, adolescence, early or late adulthood. Symptoms and metabolic episodes can also be triggered by specific foods or medications, dehydration, minor illness, sweat or other factors, which would necessitate urgent, appropriate action.
The variability of symptoms and the complexity of detecting metabolic diseases, especially in adult patients, makes identifying a metabolic disorder complicated and time-consuming. Evartia is an important and reliable test that can help uncover the cause of persistent, debilitating symptoms through genetic testing. Identification of the disease-causing variant can help patients receive the appropriate and essential treatment that can markedly improve or reduce their symptoms, benefiting their quality of life.
METABOLIC DISORDERS ARE UNDER-RECOGNIZED AND UNDER-DETECTED
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. Although such tests are useful, they mostly rely on reference intervals which may not always be suitable for the patient's age, gender or current state of health – whether they are in the middle of a metabolic crisis or not.
With Evartia, you are one genetic test away from taking informed, accurate, unbiased and early decisions on the best clinical management that will truly benefit your patient’s health.