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.


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.


Patient Benefits

  • Identifies complex diseases with a wide spectrum of symptoms and age of onset
  • Reduces the need for complex and invasive tests
  • Leads to the most effective or contraindicated therapies, including investigational therapies or possible clinical trials
  • Can reduce symptoms and chronic complications and revent disease progression with appropriate therapy
  • Allows for taking informed decisions on the best clinical management for your patient

Technological Benefits

  • Testing for an extensive list of clinically actionable mutations
  • Superior targeted genomic analysis, targeting all coding sequences of the tested genes
  • Expandable panel
  • High precision and accuracy
  • High sensitivity and specificity


To facilitate the detection process, Evartia metabolic test covers the major classes of inherited metabolic diseases and is offered as a single, detailed panel of 223 genes involved in metabolic pathways.

For a complete list of the 223 genes tested by Evartia, please click here.

WHO IS Evartia FOR?

Patients with common symptoms of a metabolic disease

Patients with a spectrum of overlapping symptoms that vary in age of onset and severity

Patients with neurological symptoms that haven’t improved with routine therapies

Individuals with a family history of a metabolic disease


Inherited metabolic diseases exhibit a wide variety of characteristics, both in the age of onset that symptoms start, as well as in the clinical presentation and severity of symptoms. The misconception that metabolic disorders are solely neonatal diseases has kept many adults with metabolic diseases undetected. Although children and adolescents also suffer from metabolic disorders, adult manifestation of symptoms differs from the classic presentation of signs and symptoms seen in children for the same disease, and may also include cardiovascular or neurological symptoms. This makes identifying a metabolic disorder in an adult an extremely complex and extensive process. Importantly, these patients have been receiving wrong and unnecessary treatments, and are left with persistent, debilitating symptoms and acute pain.

Evartia could provide you with a simple, straightforward answer for your patients, regardless of their age and how complicated their clinical presentation is. Accurate detection of the specific mutation and disorder can signal the start of beneficial treatment that can prevent or reduce acute, life-threatening symptoms and chronic complications, benefiting your patient's quality of life.

Symptoms of inherited metabolic diseases include vomiting, weight loss, seizures, abdominal pain, neurological or psychiatric symptoms, vision disturbances, impaired kidney function, liver, cardiovascular, respiratory or motor abnormalities, behavioral or learning problems, distinctive facial features and recurrent infections.



Evartia is based on a novel, target capture enrichment technology that has been thoroughly validated for its accuracy and precision.


Evartia screens for all coding regions on the genes tested, examining single nucleotide variants, small insertions and deletions and copy number variants down to single exon resolution.


Innovative bioinformatics pipelines analyze the sequencing data produced from each sample, increasing the sensitivity and specificity of Evartia.


  • Result on mutations tested
  • Thorough interpretation and clinical significance of variants

Carrier status will not be reported for recessive conditions. Re-interpretation of variants of uncertain significance will be performed at routine intervals.


Evartia can detect the genetic variant that is responsible for causing your patient's symptoms and clinical condition. This will help you to:

Identify your patient’s disease

Determine an accurate prognosis

Provide the most optimal treatment and clinical management

Consider applicable investigational therapies, gene therapies or clinical trials for the specific mutation or metabolic pathway

Be aware of specific complications that may arise, and how to avoid or manage them

Inform your patient of how this disease will affect their lives and that of their families

Recommend testing to family members, if applicable



NIPD Genetics - Privacy Policy

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