Newborn Genetic Screening test

Newborn Genetic Screening Test: Early Detection for Infant Health

The Newborn Genetic Screening Test is a safe and non-invasive blood test designed to screen your baby for a range of genetic and metabolic conditions that may appear during the first few months of life. Early detection of these conditions allows for timely medical intervention, which can significantly improve your child’s health outcomes and quality of life.

This test can identify disorders such as metabolic, endocrine, hematologic, and rare genetic conditions, even before symptoms appear. By understanding your baby’s genetic health early, you can take proactive steps to prevent complications, guide nutritional and medical care, and ensure your child receives the support they need for healthy growth and development.

Benefits of Newborn Genetic Screening:

• Detects potentially serious genetic or metabolic conditions early
• Enables timely medical care and treatment
• Helps families plan for health management and support
• Provides peace of mind by understanding your baby’s genetic health

Screening your newborn is a proactive step in safeguarding your child’s future health and ensuring the best start in life.

How Many Attempts to Collect the Blood Sample?

• Please take note of the following in our Phlebotomy policy: Each staff member is permitted only two attempts to collect a blood sample from a patient.
• However, if a patient's veins are difficult to access, another phlebotomist may take over the collection, or the patient will be rebooked to be attended by our Senior Registered Manager, with the patient's consent.

1) Oreana - Genetic Test for Newborn Screening - £550

Oreana is a Brand New Non-Invasive Genetic test that screens for specific genetic conditions that affect normal development in newborns, infants, or young children. Oreana complements the national screening programs by including more disease conditions. These conditions can either be treated or managed with early interventions. The severity of symptoms can be reduced, and prognosis, as well as the life of the affected infants, can be improved. In total, there are 106 autosomal recessive, autosomal dominant, and X-linked genetic disorders (142 genes) in 5 different categories. The sampling requirement is a buccal swab, which can be collected after the first 24h from birth to early childhood (1-2 years of age). Although symptoms of inherited metabolic diseases usually appear shortly after birth, some people can develop symptoms in early or late adulthood. Oreana is a beneficial test for: Most of the disorders included in Oreana are treatable or have a simple management strategy, such as following dietary restrictions and taking prophylactic measures. When initiated early, symptoms can be prevented in infants. Conditions that may not cause any symptoms, and infants may not show any signs of illness. However, after symptoms begin, their harm may be irreparable, and the health of the baby can deteriorate quickly, so early detection is beneficial. Symptomatic infants have symptoms or signs of a disorder that can be difficult to clearly identify due to its complexity. In such scenarios, Oreana could properly identify the genetic change (mutation) responsible for the disease and can result in the affected child getting the best treatment. Oreana is a Valuable test for Asymptomatic babies, for early identification of their seriousness may be decreased, improving the prognosis and life expectancy

WHAT DOES Oreana TEST FOR?

Oreana tests for 142 genes and 106 Autosomal Recessive, Autosomal Dominant, and X-Linked disorders. The disorders tested by Oreana are included in the 'Recommended Uniform Screening Panel', a list of disorders selected based upon the recommendations of the American College of Medical Genetics (ACMG) for newborn screening. Additionally, clinically significant, manageable disorders were added to the Oreana panel.

WHY CHOOSE Oreana NEONATAL SCREENING?

• Results are reported quickly, so if necessary, your baby can start beneficial treatment as soon as possible
• Tests for disease-causing genetic changes (mutations), that cause serious health problems
• Superior technology that yields accurate results
• Non-invasive and painless for the infant
• Complements newborn screening programs that test a smaller number of disorders

HOW IS TESTING PERFORMED?

Testing is quick and safe for your baby. A healthcare practitioner will use a specialised, soft swab to collect samples 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. The results will be reported back to your healthcare practitioner within 2-3 weeks of sample receipt.

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 minimise the impact of the disease. To secure your appointment at Miracle Inside Diagnostic Scan Centre, the following payments are required:

• • Deposit: A non-refundable deposit of £30.
  • Phlebotomy Charges: An additional fee of £25 is charged for phlebotomy services and the DHL courier service to timely deliver the blood to the laboratory.

Online Booking System

These payments must be made when booking to confirm your appointment. The remaining balance for your services can be paid through our website after your appointment. This ensures a smooth and efficient process for both our staff and patients. For any questions or assistance regarding payment, don't hesitate to get in touch with our customer service team at 01134608760 This is just a small sample of the many blood tests provided by Miracle Inside. Please contact our expert healthcare professional for advice on the most appropriate tests for your condition during your consultation..

2) Evartia Genetic test for inherited metabolic diseases - £600

Evartia detects genetic mutations that cause inherited metabolic diseases with variable expressivity and age of onset. There are 13 disease categories and 223 genes specifically focusing on metabolic conditions. Evartia is a brand-new genetic test that detects genetic mutations (changes) that cause inherited metabolic diseases in people. The majority of newborn screening is still being done by biochemical testing, and disease conditions are added yearly to the national screening programs. Adults and children with the same metabolic disorder might have different symptoms, and this, in turn, makes adults more prone to misdiagnosis. In addition to this, since biochemical tests use urine, sweat or blood samples, there are no reliable reference values that would be enough to cover all diseases and compare different individuals. Therefore, adults are usually under-recognised. Moreover, you will find an article attached to this email, which is about gene therapy available for metabolic disorders. Our Evartia panel covers nearly all of the conditions that are candidates for gene therapy. People with inherited metabolic disorders can have a range of symptoms, together with variable expressivity and age of onset. Symptoms may manifest soon after birth or in infancy, childhood, adolescence or adulthood. Symptoms can also occur suddenly due to specific foods or drugs, dehydration, illnesses or other factors. With Evartia, in case you have an inherited metabolic disorder, discovering and managing it early may prevent or reduce symptoms, avoid chronic health consequences and improve your wellbeing. avaritia genetic test Please get your Private Blood tests booked by clicking Book Your Blood Tests Today

WHAT ARE INHERITED METABOLIC DISEASES?

Metabolic pathways have pivotal roles in keeping our bodies healthy. Their main activities include generating energy and taking the essential nutrients from the foods we eat. When a mutation (genetic modification ) happens in a metabolic pathway, it may result in the accumulation of toxic chemicals in our body or insufficient generation of required goods that keep us healthy and functional. As a result, metabolic diseases can affect our health and growth and cause severe and chronic complications. Symptoms of inherited metabolic disorders usually appear soon after birth. Nonetheless, based on the mutation, the metabolic pathway involved, and the intensity of the problem, some people with inherited metabolic disorders can create symptoms in early or late adulthood. There is excellent variability in the symptoms and the severity of symptoms brought on by metabolic disorders. Importantly, adults and kids with the same metabolic disorder may have different symptoms. In addition, the misconception that metabolic diseases only affect babies and young kids leaves many adults experiencing metabolic disorders unrecognised and unnoticed. WHY ASK MY DOCTOR ABOUT Evartia? Inherited metabolic diseases may be individually rare, but collectively they are numerous. As they have variable symptoms, detecting an inherited metabolic disorder in an individual is not always straightforward. The usual pathway of identifying a metabolic disease involves lengthy and complicated biochemical or enzymatic tests. This may include testing a variety of specimen types, such as blood, urine, sweat, and even undergoing invasive brain or muscle tissue biopsy. Such tests rely on reference intervals, which may not always be suitable for the individual's age, gender, or current state of health, whether they are in the middle of a metabolic episode or not. Often, they also require a genetic test to confirm the mutation. With Evartia, you are one simple, painless and reliable test away from making informed and accurate decisions on the best clinical management for you.

WHY CHOOSE Evartia?

• Tests for disease-causing genetic changes that cause serious health problems
• Identifies the best therapy for you that can reduce or improve symptoms and chronic complications
• Painless and non-invasive collection method
• Reduces the need for lengthy, complicated, and invasive procedures
• Utilises superior technology that yields accurate results

WHAT DOES Evartia TEST FOR?

Evartia metabolic test covers the major categories of inherited metabolic diseases and is offered as a single, detailed panel of 223 genes involved in metabolic pathways. Evartia tests for autosomal recessive, autosomal dominant, and X-linked disorders. These 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. Additionally, this means that if you are affected by a metabolic disease, some of your family members may also benefit from metabolic testing. Early detection has a higher potential to reduce symptoms or minimise their severity, improving the quality of life of the person with the metabolic disease. Please click for More Information On screening tests for 106 genetic disorders To contact us for more information on these blood tests, call 📞 01138301371 to speak with the Healthcare Professional To book your Blood test, please click BOOK NOW. ALL bookings will require a £50 deposit payment to secure the booking, and the rest after the appointment.

3) Outlook Newborn Screening Test - £295

The Outlook newborn screening test can screen your baby for a range of genetic conditions likely to develop within their first few months of life. It gives you a clear picture of your baby’s predisposition to develop:

Lactose intolerance

This is an allergy to milk and dairy products, which can develop at any age. People with lactose intolerance are unable to break down two sugars called glucose and galactose due to reduced production of the enzyme, lactase. This causes bacteria to develop in the digestive system and can cause abdominal pain, diarrhoea, nausea and vomiting after milk-based products are consumed.

Coeliac disease

Also known as gluten intolerance, coeliac disease is fairly common and can develop and be diagnosed at any age. It involves the small intestines becoming hypersensitive to gluten, causing inflammation and an inability to absorb important nutrients. This leads to digestive problems and a range of other symptoms. Trigger foods include wheat, barley and rye found in pasta, cakes, cereals, bread & some sauces.

Medication-induced deafness

A certain type of antibiotic commonly used in the treatment of infants – aminoglycosides – is known to cause damage to the inner ear. Some children carry a mitochondrial mutation that predisposes them to severe hearing loss after just one dose of these antibiotics. Bitter taste An adverse reaction to foods such as cabbage, broccoli, sprouts and other cruciferous vegetables, bitter taste is caused by sensitivity to bitter-tasting compounds called glucosinolates. People who have this increased sensitivity are known as ‘tasters’. The presence of this genetic trait can determine whether someone is likely to have a more intense bitter taste response to certain foods than ‘non-tasters. To contact us for more information, to know about these blood test call 📞 01138301371 to speak with the Healthcare Professional ALL bookings will require a £50 deposit payment to secure the booking, and the rest after the appointment. ( A £10 / £ 20 courier charge will be applied for next-day / urgent same-day results ) . Please inform us at the time of booking if you require same-day results.

Why have the Outlook screening test?

A newborn screening test is a simple way to gain peace of mind. Screening for genetic variants of these four conditions can mean that, if symptoms develop, their condition can be diagnosed and treated faster. It can also prepare you for any possible medical or dietary requirements your child may have in the future.

How is the test carried out?

The test consists of two swabs, one rubbed against the inside of your baby’s right cheek and one rubbed against the left. Swabbing each cheek takes two minutes and is painless, requiring no more force than you would use to clean your baby’s teeth. The test can be carried out at any age from newborn upwards. Swabs can’t be taken within 30 minutes of a milk feed as milk residue will interfere with the test results.

Results

Your baby’s swabs will be sent to a Nottingham-based lab for analysis, and the results will be posted directly to you within 21 working days of receipt. If you would like to discuss this Outlook screening test, or wish to book to have the Screening carried out, please either give us a call at 01138301371 Book now your spot for the Newborn Genetic Screening test in Leeds by calling 01134608760 to speak to the Healthcare Professional To get your Appointment Booked, please CLICK HERE 

---

Newborn Genetic Screening Tests at Miracle Inside - FAQ

1. What are newborn genetic screening tests?
Newborn genetic screening tests are safe, non-invasive tests designed to detect genetic and metabolic conditions in infants, often before any symptoms appear. Early detection allows timely medical intervention, which can improve your baby’s long-term health and quality of life.

2. Which newborn genetic tests are available at Miracle Inside?
      We provide a range of advanced tests, including:

• Oreana Genetic Test – Screens for 106 genetic disorders across 142 genes.
• Evartia Genetic Test – Focuses on 223 genes associated with inherited metabolic diseases.
• Outlook Newborn Screening Test – Screens for lactose intolerance, coeliac disease, medication-induced deafness, and bitter taste sensitivity.

3. How do these tests work?

• Oreana & Evartia: Buccal swab (cheek) or small blood sample, painless and quick.
• Outlook: Two cheek swabs, one from each side, takes about 2 minutes. Samples are sent to accredited labs for analysis.

4. When can my baby be tested?
Tests can be conducted anytime from 24 hours after birth up to early childhood. Earlier testing allows for timely interventions if needed.

5. What conditions do these tests detect?

• Oreana: 106 genetic disorders (autosomal recessive, dominant, X-linked), including treatable or manageable metabolic and developmental conditions.
• Evartia: 223 genes linked to inherited metabolic disorders with variable age of onset.
• Outlook: Lactose intolerance, coeliac disease, medication-induced deafness, and bitter taste sensitivity.

6. Are these tests safe for newborns?
Yes. All tests use non-invasive, painless sampling methods and are completely safe for infants.

7. How long does it take to get results?

• Oreana & Evartia: Typically 2–3 weeks after the lab receives the sample.
• Outlook: Usually within 21 working days.

8. Why is early detection important?
Early detection helps identify conditions before symptoms appear, allowing:

• Preventive or therapeutic interventions
• Tailored nutrition and lifestyle adjustments
• Improved long-term health outcomes and quality of life

9. Do these tests replace standard newborn screening?
No. These tests complement national screening programs. They cover additional conditions that may not be included in routine public health screening.

10. What happens if a test detects a problem?
If a genetic mutation or condition is found, a genetic counsellor will explain the results, potential risks, management strategies, and follow-up steps. Families receive guidance on early interventions and support.

11. Can adults or older children benefit from these tests?
Some tests, like Evartia, can be useful beyond infancy, particularly for metabolic disorders that may manifest later in childhood or adulthood.

12. How are the samples collected and handled?

• Buccal swabs are used for painless DNA collection.
• Blood samples, if required, follow strict phlebotomy protocols.
• Samples are stabilised and sent to certified labs via tracked courier services.

13. What are the costs and booking process?

• Oreana: £550
• Evartia: £600
• Outlook: £295

14. How can I book a test at Miracle Inside?
You can call 01138301371 to speak with our healthcare professionals or book online to secure your newborn genetic screening appointment.

15. Are there any repeat attempts for sample collection?
Each phlebotomist is permitted two attempts to collect a sample. If unsuccessful, another staff member or the Senior Registered Manager will assist, with patient consent.

---

To secure your appointment at Miracle Inside Diagnostic Scan Centre, the following payments are required:

• Deposit: A non-refundable deposit of £30.
• Phlebotomy Charges: An additional fee of £35 is charged for phlebotomy services and the DHL courier service to timely deliver the blood to the laboratory.

These payments must be made when booking to confirm your appointment. The remaining balance for your services can be paid through our website after your appointment. This ensures a smooth and efficient process for both our staff and patients.

The Appropriate cancellation charge will apply as shown below.

• Amendments: 72 hrs ( 3 days Notice )
• Bookings made on the same day or 1 to 3 days before your appointment cannot be amended.
• Refund Applicable: 14 Days or more: Full refund
• Between 10 and 14 days: £30 non-refundable deposit balance paid will be refunded
• Between 1 and 9 days: No refund will be given
• Failure to attend: No refund will be given
• Rescheduled Appointments are not eligible for Cancellation or Refunds.

At Miracle Inside Diagnostic Scan Centre, we firmly believe that knowledge is the cornerstone of good health. Our dedicated team is committed to supporting you on your unique health journey, offering expertise, compassion, and confidentiality every step of the way. To Get Your appointment booked, please CLICK HERE For any questions or assistance regarding payment, don't hesitate to get in touch with our customer service team at 01134608760