THE MOST COMPLETE AND ACCURATE NEWBORN SCREENING TEST · 3 is a genetic test that screens babies...
Transcript of THE MOST COMPLETE AND ACCURATE NEWBORN SCREENING TEST · 3 is a genetic test that screens babies...
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THE MOST COMPLETE AND ACCURATE NEWBORN SCREENING TEST
THAT GIVES EARLY INSIGHT INTO BABY’S HEALTH
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Almost every child is screened for certain medical conditions shortly after birth.
Commonly known as newborn screening , this public health program helps identify babies who may be at an increased risk for serious, but treatable, inherited conditions soon after birth or in childhood.
Newborn screening is currently performed using biochemical assays, only for selected conditions for which treatment options exist. In general, most countries screen for 34 conditions that are recommended. This is also known as the Recommended Uniform Screening Panel (RUSP). 1,2
1) https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html
2) “Newborn Screening: Beyond the Spot” Urv et Al. Adv Exp Med Biol. 2017;1031:323-346
WHAT IS A NEWBORN SCREENING TEST?
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IS A GENETIC TEST THAT SCREENS BABIES FOR A NUMBER OF SERIOUS INHERITED GENETIC DISORDERS THAT CAN APPEAR SOON AFTER BIRTH OR LATER IN CHILDHOOD.
BabyNEXT™ is the most extensive newborn screening.
BabyNEXT™ screens for the 34 conditions on the RUSP, as well as more than 200 additional conditions that can benef it f rom early detection.
BabyNEXT™ is able to screen for a wider range of conditions than current biochemical newborn screening.
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BabyNEXT™ is a highly accurate newborn screening test that analyzes baby’s DNA for 200+ conditions, as well as providing personalized genetic information on the metabolism of 30+ medications
BabyNEXT™ only screens for conditions that can be treated with medications, dietary modif ications, or other therapies. Early screening with BabyNEXT™ test can help parents and paediatrician to know whether to take proactive steps, sooner, to care for baby’s health.
S TA N D A R DIt analyses 86 genes for 87 diseases
(including 34 conditions of the Recommended Uniform Screening Panel RUSP)
E X T E N D E DIt analyses 220 genes for 222 diseases
(including 34 conditions of the Recommended Uniform Screening Panel RUSP)
The innovation:PHARMACOGENETICS
BabyNEXT™ allows to evaluate the baby response to more than 30 medications, thus allowing personalized treatment throughout life.
TWO LEVELS OF SCREENING:
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BabyNEXT™ The newborn screening testwith unmatched detection of serious disorders
Categories of genetic disorders screened
DeafnessMetabolic Disorder - Inborn error of fatty acid metabolism
Metabolic Disorder - Inborn error of amino acid metabolism
Endocrine DisorderMetabolic Disorder - Inborn error of organic acid metabolism
Miscellaneous multisystem diseases
Hemoglobinopathies Metabolic Disorder - Organic Acidemias
Lysosomal Storage Disorders (LSD)
Primary Immunological def iciency
Pharmacogenetic analysis: categories of medications
Analgesics Antifungal Agents Antipsychotics
Anticoaugulants Antidepressants Antivirals
Anticonvulsants Antilipemic Agents Enzyme Inhibitors
Antiemetics Antineoplastics Agents Psychotropics
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INDICATION FOR TESTING
Individuals presenting symptoms of a metabolic disorder (e.g. developmental delay, seizure, lethargy, ataxia, behavioural abnormalities, deaf ness, blindness, etc.).
Individuals with a positive family history of metabolic disease.
Individuals without a positive family history but with symptoms resembling the specif ic disease indication.
Individuals with a negative, but suspected, family history in order to perform proper genetic counselling (prenatal analysis are recommended in families of affected individuals).
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WHY CHOOSE BabyNEXT™?
Baby Next™ screens for more diseases compared to traditional Newborn screening tests available.
Most babies who are born with these conditions appear healthy at f irst Baby Next™ can help in early diagnosis.
Without early screening, a condition may not be discovered until symptoms appear. This may be too late to prevent serious health consequences.
Early screening with Baby Next™ test can help to know whether to take proactive steps, sooner, to care for baby’s health.
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BabyNEXT™
CLEAR TEST RESULTS REPORTING
POSITIVE RESULTPathogenic/Likely Pathogenic mutation(s) detectedThis test result indicates that a well-characterized disease-causing mutation(s) was identif ied.
Only known pathogenic and likely pathogenic mutations are reported.
NEGATIVE RESULTNO Pathogenic/Likely Pathogenic mutation(s) detectedThis test result indicates that no disease-causing mutations have been detected in the targeted genes screened. A negative test result reduces, but doesn’t eliminate, a child’s risk of being affected by these genetic conditions or any other genetic condition not covered by this test.
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AdvancedIt utilizes a groundbreaking sequencing technology (NSG), coupled with a leading bioinformatic analysis.
Non-invasiveA simple cheek swab is designed for gentle and simple non-invasive sample collection.
AccurateSensitivity and specificity >99%.
FastTurnaround time of just 15 days.
ComprehensiveIt detects 200+ childhood conditions to give more comprehensive insight into baby’s health.
PersonalisedIt includes a pharmacogenetic analysis of a child’s response to more than 30 medications that may be prescribed, during childhood, thus allowing a personalize treatment throughout life.
UsefulIt helps parents and pediatrician to know whether to take proactive steps, sooner, to care for baby’s health.
ActionableIt includes only conditions that may be treated with medication, dietary modification, or other therapies.
ExtendedIt screens also for genetic conditions that can’t be detected by standard carrier screening or prenatal tests.
GlobalIt is used f rom thousands of pediatricians worldwide
BabyNEXT™
TEST CHARACTERISTICS
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Next Generation Sequencing (NGS)Next Generation
Sequencing (NGS)
DNA SEQUENCING DNA MUTATIONANALYSIS
RESULTDNA ISOLATION
THE TECHNOLOGY Baby Next™ is performed f rom baby’s DNA isolated f rom cells collected by a buccal swab. Through a state-of-the-art technological process, named Next Generation Sequencing (NGS), genes included in the Babynext panels are completely sequenced at high read depth.
The resulting genetic sequences are analysed via an advanced bioinformatics analysis, to identifiy disease-causing mutations in the targeted genes screened
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FILL-IN all required TRF information and enclose the informed consent signed by the parents or legal guardians.
ORDER the DNA collection kit that will be sent directly to your office or center.
COLLECT a DNA sample through a buccal swab performed on the child.
SHIP the sample to the Lab
RECEIVE the results in 15 working days.
BabyNEXT™
How does it work?:
ROMA - Laboratories and Medical OfficesVia Castel Giubileo, 11 – 00138 Roma (RM) Tel.: +39 06 8811270 (6 PBX lines) - Fax: +39 06 64492025E-mail: [email protected]
MILANO - Laboratories and Medical OfficesVia Enrico Cialdini, 16 (Affori Centre) – 20161 Milano (MI)Tel.: +39 02 39297626 (12 PBX lines) - Fax: +39 02 392976261E-mail: [email protected]
www. laborator iogenoma.euwww.babyn ext . i t
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Test performed in Italy(Rome or Milan)
20 years experience in prenatal molecular diagnostics
Laboratories with groundbreaking technologies
Over 200.000 genetic tests/year
Fast TAT: 10 days
Personalized genetic counselingwith genetic counselors experts in discussing genetic test results and familial risks
Test available worldwide
Dedicated R&D teamNumerous peer-reviewed papers published in renowned international journals
EXPERTISE AND QUALITY YOU CAN TRUSTFrom over 20 years, Genoma is the leading pioneer in genetic testing, focusing on finding the genetic cause of each patient’s medical or developmental problem. Our team’s unmatched knowledge and experience deliver a combination of advanced technology and deep patient data sets that lead to more accurate diagnosis.
Eurofins Genoma Group sole shareholder limited liability company