Oreana – Newborn Screening Test

Description

What is Oreana?

Oreana is a new genetic test that screens for genetic conditions which affect normal development in newborns, infants or young children.

Oreana is a beneficial test for:

® Asymptomatic 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 is beneficial.

® Symptomatic infants 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 could correctly identify the genetic change (mutation) responsible for the disease, and can lead to the affected child receiving the optimal treatment.

Most of the disorders included in Oreana are either treatable or have a simple management plan such as following dietary restrictions and taking prophylactic measures.

When initiated early, symptoms can be prevented or their severity may be reduced, improving the prognosis and life expectancy of affected infants.

WHAT DOES OREANA TEST FOR:

Oreana tests for 106 genetic conditions that when detected early, can prevent or reduce serious consequences such as developmental delay, cognitive impairment, neurological and physical problems and premature death.

METABOLIC DISORDERS

Lifelong dietary management is required. Early diagnosis and interventions can help prevent symptoms and improve prognosis.

ENDOCRINE DISORDERS

Early medical treatment and interventions can improve thyroid function, growth, development and metabolism. Lifelong treatment and follow-up by specialists is necessary

HAEMOGLOBIN DISORDERS

Medical treatment, dietary management and transfusions are critical and needed lifelong

HEARING LOSS DISORDERS

Hearing aids, cochlear implants or other services can help with creating the best management plan. Early interventions can improve the speech, language and social skills of affected children.

IMMUNODEFICIENCY, PULMONARY OR MUSCULOSKELETAL DISORDERS

Including Cystic Fibrosis, Severe Combined Immunodeficiencies and Spinal Muscular Atrophy. Early detection is critical for prompt medical treatment, such as bone marrow transplantation, and better prognosis.

*The conditions tested may be inherited from carrier parents who are unaware of their carrier status to their children, or without a known or prior family history of that disorder.

WHAT ARE THE BENEFITS OF Oreana NEONATAL SCREENING?

With Oreana, early detection of life-altering disorders can benefit the infant’s health and quality of life. The initial symptoms for many of these disorders include vomiting, lack of energy, breathing problems, feeding diffi­culties, and episodes of metabolic crises that require urgent care.

Although treatment can begin when infants first start showing symptoms, which may be a few weeks or months after birth, their growth and development will already be impacted. Early detection and starting treatment as soon as possible is the most favourable way to prevent symptoms or minimize the impact of the condition.

Early detection can:

• Prevent or minimize symptoms
• Reduce the impact of the condition
• Reduce the time spent for diagnosis, and prevent a late diagnosis
• Permit early clinical interventions, treatment and management which will be more beneficial for the infant
• Enable potential participation of the infant in experimental therapies or clinical trials

WHEN IS THE IDEAL TIME FOR TESTING?

Your baby can get tested anytime after the first 24 hours of birth, up until early childhood. Ideally, the earlier the infant is tested, the sooner you will know whether they are affected, and start beneficial treatments that can prevent the onset of symptoms or minimize the impact of the disease.

HOW IS THE TEST PERFORMED:

• Testing is quick and safe for your baby. We will use a specialised, soft swab to collect sample from the inside of the cheek of the infant, by moving it around in circular movements.
• The procedure is painless and is completed in a few seconds – can be carried out in the comfort of your own home
• The results will be reported back to your test provider within 14 – 21 working days of sample receipt

We always recommend that test results are discussed with your Healthcare Provider.

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Please click here to view full list of conditions