Evartia: Metabolic Test

This metabolic gene panel is intended for:

• Individuals with a family history of a metabolic disease
• Patients with common symptoms of a metabolic disease (abdominal pain, vomiting, weight loss, vision disturbances, etc.)
• 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

Diagnostic testing can:

• Support identification of the molecular cause of metabolic disease
• Assist differential diagnosis where phenotypes overlap
• Inform family evaluation and carrier assessment
• Support clinical decision-making when combined with biochemical data

Clinically significant variant detected
A pathogenic or likely pathogenic variant has been identified in a gene tested, which is associated with a metabolic disease.

No clinically significant variant detected
No disease-causing genetic variant has been identified in the genes tested.

Variant of uncertain significance (VUS)
A genetic change has been detected, but it is currently unknown whether that change is associated with a genetic disorder.

Upon request, carrier status can be reported for recessive conditions.

Variant re-evaluation can be requested by healthcare providers at defined timeframes.

Evartia could detect the genetic variant that is responsible for causing a patient’s symptoms and clinical condition.

The comprehensive report will help:

• Identify the patient’s disease
• Determine an accurate prognosis
• Provide the most optimal treatment and clinical management
• Consider applicable investigational therapies, gene therapies or clinical trials
• Inform on specific complications that may arise and how to prevent or manage them
• Notify the patient of how this disease will affect their lives and that of their families
• Recommend testing and genetic counseling to family members, if applicable

Genetic counselling is a specialised, patient-centered, impartial, and non-directive communication process that supports patients and their families both before and after genetic testing.

Prior to genetic testing, genetic counsellors obtain a detailed medical and family history and provide education on genetic concepts, the testing process, and available options, along with the potential risks, benefits, limitations, and possible outcomes.

Upon receiving genetic test results, genetic counsellors assist in interpreting the findings and guide individuals through the implications for their own personal health and that of their family members. During post-test counselling, genetic counsellors also provide evidence-based recommendations on next steps, including strategies for prevention, surveillance, and management.

The goal of genetic counselling is to empower patients through knowledge and tailored support, enabling them to make informed and voluntary decisions.

gDNA is extracted using a standardized methodology and subjected to mechanical fragmentation prior to DNA library preparation. DNA enrichment for the genomic regions of interest is carried out using a solution-based hybridization method, followed by next generation sequencing (NGS). Single nucleotide variants, small insertions and deletions (≤30bp), and copy number variations (CNVs) are reported. All positive CNVs are confirmed using an orthogonal method. The test aims to detect all coding exons, of MANE and/or Canonical transcripts, and 10bp of adjacent intronic sequence.

Exceptions may include: regions containing repeats, sequences of high homology such as segmental duplications and pseudogenes, as well as regions of extreme GC-content.

Variants are classified according to the criteria set by the American College of Medical Genetics and Genomics. Classification and interpretation of variants is performed using the Varsome Clinical platform, and is according to the published knowledge at the time of testing.