Newborn Genetic Screening Test: Early Detection for Infant Health
The Newborn Screening test can screen your baby for a range of genetic conditions likely to develop within their first few months of 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 quality 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 be clearly identified due to the complexity or 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. Additional, 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
Please click to View the Patients Brochure
HOW IS TESTING PERFORMED?
Testing is quick and safe for your baby. A healthcare practitioner will use a specialized, 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 minimize 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 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.
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 exposed 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-recognized. 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 most activities include generating energy and taking the essential nutrients in 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 unrecognized and unnoticed.
evartia screening test
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.
Please click to View the Patients Brochure
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
- Utilizes 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 minimize 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 to know about 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. ( 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.
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 and 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 an increased 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.
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 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.
For any questions or assistance regarding payment, don’t hesitate to get in touch with our customer service team at 01134608760
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
