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
and screens for the 34 conditions on the RUSP, as well as more than
200 additional conditions that can benef
it from early detection.
BabyNEXT™ is able to screen for a wider range
of conditions than current biochemical newborn
screening.
WHAT IS A NEWBORN SCREENING TEST?
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
Bibliography
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
Technology
BabyNEXT™ is performed from baby’s DNA isolated from 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.
guarantees competence, experience and quality
Personalized
It 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.
Comprehensive
It detects 200+ childhood conditions to give more comprehensive insight into baby’s health.
Actionable
It includes only conditions that may be treated with medication, dietary modification, or other therapies.
Advanced
It utilizes a groundbreaking sequencing technology (NSG), coupled with a leading bioinformatic analysis.
Useful
It helps parents and pediatrician to
know whether to take proactive steps,
sooner, to care for baby’s health.
Non-invasive
A simple cheek swab is designed for
gentle and simple non-invasive sample
collection.
Accurate
Sensitivity and specificity >99%.
Fast
Turnaround time of just 15 days.
Screening levels
2 screening levels
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 modifications, 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.
Both BabyNEXT™ screen levels allow to evaluate the baby
response to more than 30 medications,
thus allowing a personalized treatment
throughout life.
Why choose BabyNEXT
BabyNEXT™ screens for more diseases compared to traditional
Newborn screening tests available.
Most babies who are born with these conditions appear healthy at first BabyNEXT™ can help in early diagnosis.
Without early screening, a condition may not be discovered until
symptoms appear, and it could be too late to prevent serious health
consequences.
Early screening with BabyNEXT™ test can help to know whether to
take proactive steps, sooner, to care for baby’s health.
Complete test
BabyNEXT™ is able to screen for a wider
range of conditions than newborn
screening available.
Early diagnosis
BabyNEXT™ allows the early screening of
conditions that may not be discovered until
symptoms appear.
BabyNEXT™ can help to know whether to
take proactive steps, sooner, to care for
baby’s health.
Results
Clear and simple reporting
POSITIVE RESULT
Pathogenic/Likely Pathogenic mutation(s) detected
This test result indicates that a well-characterized disease causing
mutation(s) was identified.
Only known pathogenic and likely pathogenic mutations are
reported.
NEGATIVE RESULT
NO Pathogenic/Likely Pathogenic mutation(s) detected
This 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.
The report also includes the pharmacogenetics test results showing the metabolic response of the child to the analyzed drugs, as complementary service included in BabyNEXT test.
Indication for testing
Individuals presenting symptoms of a metabolic disorder (e.g. developmental
delay, seizure, lethargy, ataxia, behavioural abnormalities, deafness,
blindness, etc.).
Individuals with a positive family history of metabolic disease.
Individuals without a positive family history but with symptoms
resembling the specific 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).
Useful Documents
Information for physician
BabyNEXT™ Brochures
BabyNEXT™ Brochure
for future parents
BabyNEXT™ Brochure
for physicians
BabyNEXT™ Useful Forms
BabyNEXT™
Requisition Form
BabyNEXT™
Patient Information
BabyNEXT™
Informed consent
BabyNEXT ™ EXTENDED
Technical report
BabyNEXT ™ STANDARD
Technical report
BabyNEXT™
Buccal swab kit instructions
CONTACT US
Information request form
Information request
Contact us by calling the Contact Center 06.164161500
(12 lines PBX ) to discover how you can perform
BabyNEXT™
test or fill out the form below. Your personal information will be used exclusively to satisfy your request, in the absolute respect of your privacy.