NIPD Genetics launches Oreana, a neonatal genetic screening test of 106 manageable genetic diseases that can affect normal development of children

January 25, 2021, Nicosia, Cyprus: NIPD Genetics announces the launch of Oreana, an expanded neonatal genetic screening test for newborns, infants or children, that screens for 106 genetic conditions in 142 genes. When detected early, the conditions tested in Oreana can be manageable or treatable given how therapies and clinical management can prevent serious, life-long consequences including developmental delay and premature death, benefiting the prognosis and the quality of life of the affected child.

Oreana neonatal genetic screening is for:

(a) Asymptomatic newborns or infants, for early identification of conditions which may not cause any symptoms initially and babies may not show any signs of illness. However, once symptoms begin, their damage may be irreparable and the health of the infant can deteriorate quickly, so early detection and interventions are beneficial for the infant.

(b) Symptomatic newborns, infants or young children which have signs or symptoms of disease that can be difficult to be clearly identified due to complexity or variability of symptoms. In these cases, Oreana can correctly detect the genetic change (mutation) responsible for the disease and can point to the optimal treatment.

Oreana 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. Oreana screens for Autosomal Recessive, Autosomal Dominant and X-Linked disorders of metabolic, endocrine, haemoglobin, pulmonary and musculoskeletal nature, as well as hearing loss and immunodeficiency disorders. The selection of the genetic conditions included in Oreana was based on the ‘Recommended Uniform Screening Panel’, which is a list of disorders selected based upon the American College of Medical Genetics (ACMG) recommendations for newborn screening.

NIPD Genetics’s Founder and CEO, Prof. Philippos Patsalis, stated on the launch of Oreana ‘Oreana neonatal genetic screening tests for 106 genetic disorders that are treatable or manageable. Early detection of infants who are affected by one of the diseases tested can significantly improve their life quality and prognosis. Oreana can complement national screening programs in screening asymptomatic infants, or be used to identify the genetic change responsible for causing clinical signs in symptomatic children. Early detection can prevent or minimize symptoms, limit irreparable health damage, avoid a lengthy or late diagnosis and enable informed decisions regarding early clinical management and interventions, benefiting the quality of life of affected infants’.

Oreana is performed through a simple, painless and non-invasive buccal swab. The sample is sent from the healthcare provider to NIPD Genetics’ central laboratory for analysis. Results are reported back to the healthcare provider within 2-3 weeks from sample receipt to the laboratory, allowing them to take informed and early decisions on the best clinical management for the infant 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.

For more information on NIPD Genetics and Oreana, visit www.nipd.com/oreana