NIPD Genetics launches Evartia, a proprietary metabolic screening test that examines 223 genes involved in major metabolic pathways
March 8, 2021, Nicosia, Cyprus: NIPD Genetics announces the launch of Evartia, a new genetic test for people suspected of having inherited metabolic diseases. Evartia covers the major classes of inherited metabolic diseases and is offered as a single, detailed panel of 223 genes involved in metabolic pathways.
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. Symptoms of inherited metabolic diseases 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. Importantly, adult manifestation differs from the classic symptoms seen in children for the same disease, and may include vomiting, weight loss, neurological or psychiatric symptoms, motor or cardiovascular abnormalities. Consequently, identifying a metabolic disorder in an adult may be an extremely complex and extensive process. Evartia is applicable for individuals with common symptoms of a metabolic disease, individuals with a spectrum of overlapping symptoms that vary in age of onset and severity, individuals with neurological symptoms that haven’t improved with routine therapies, and individuals with a family history of a metabolic disease.
According to NIPD Genetics’ Founder and CEO, Professor Philippos Patsalis, ‘The misconception that metabolic disorders are solely neonatal diseases has kept many adults with inherited metabolic diseases undetected, taking wrong or unnecessary treatments and left with persistent pain. Through genetic testing, Evartia can help uncover the cause of debilitating symptoms regardless of the patient’s age and the complexity of the phenotype. In turn, this can lead to beneficial treatment that can prevent or reduce life-threatening symptoms and chronic complications, benefiting the patient’s quality of life.’
Evartia is built on NIPD Genetics’s proprietary and patented technology platform that has been validated in several studies and is trusted for its accuracy and precision. It screens for all coding regions on the genes tested, examining single nucleotide variants, small insertions and deletions and copy number variants. Evartia screens for autosomal recessive, autosomal dominant and X-linked disorders. It is performed through a simple and non-invasive buccal swab. Results are sent back to the healthcare provider through a secure portal within 2-4 weeks of sample receipt to the laboratory, allowing them to take informed and early decisions on the best clinical management for the patient and their families.
About NIPD Genetics:
NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a broad spectrum of healthcare services through its expansive portfolio of molecular and clinical laboratory tests in all disciplines. Established in 2010, NIPD Genetics’s state-of-the-art laboratories are CAP-accredited and certified per CLIA and ISO standards. NIPD Genetics is committed to using its extensive know-how and advanced technology to safely, quickly, and efficiently provide accurate and reliable results to our patients and partners throughout the world.
NIPD Genetics is a leading, innovative biotechnology company that designs, develops, and provides a
broad spectrum of healthcare services to its customers through its expansive portfolio of molecular
and clinical laboratory tests in all disciplines.
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