BabyNext

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.

Brochure for physicians

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.


Groundbreaking technologies

BabyNEXT

guarantees competence, experience and quality
Personalized

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

Comprehensive

It detects 200+ childhood conditions to give more comprehensive insight into baby’s health.


Actionable

Actionable

It includes only conditions that may be treated with medication, dietary modification, or other therapies.


Advanced

Advanced

It utilizes a groundbreaking sequencing technology (NSG), coupled with a leading bioinformatic analysis.


Useful

Useful

It helps parents and pediatrician to know whether to take proactive steps, sooner, to care for baby’s health.

Non-invasive

Non-invasive

A simple cheek swab is designed for gentle and simple non-invasive sample collection.

Accurate

Accurate

Sensitivity and specificity >99%.

Fast

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.

STANDARD

It analyses
86 genes for 87 diseases
(including 34 conditions of the Recommended Uniform Screening Panel RUSP)

Genes Investigated



Both BabyNEXT screen levels allow to evaluate the baby response to more than 30 medications, thus allowing a personalized treatment throughout life.

EXTENDED

It analyses
220 genes for 222 diseases
(including 34 conditions of the Recommended Uniform Screening Panel RUSP)

Genes Investigated

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

Complete test

BabyNEXT is able to screen for a wider range of conditions than newborn screening available.

Early diagnosis

Early diagnosis

BabyNEXT allows the early screening of conditions that may not be discovered until symptoms appear.

Targeted therapy

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.

BabyNEXT

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

Brochure for future parents

BabyNEXT Brochure
for future parents

Brochure for physicians

BabyNEXT Brochure
for physicians

BabyNEXT Useful Forms

Modulo di richiesta esame BabyNEXT

BabyNEXT
Requisition Form

BabyNEXT Patient Information

BabyNEXT
Patient Information

Informed consent

BabyNEXT
Informed consent

Technical report

BabyNEXT EXTENDED
Technical report

Technical report

BabyNEXT STANDARD
Technical report

BabyNEXT Kit instructions buccal swab

BabyNEXT
Buccal swab kit instructions

BabyNEXT

Simple procedure and fast reporting

ORDER the DNA collection kit that will be sent directly to your office or center.

FILL-IN all required TRF information and enclose the informed consent

COLLECT a DNA sample through a buccal swab performed on the child.

SHIP the sample to Genoma Lab (no shipping costs)

RECEIVE the results in 15 working days.

IN CASE OF A POSITIVE RESULT WE RECOMMEND TO REQUEST A COUNSELING WITH A SPECIALIST IN GENETICS

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.

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ROME Laboratories
Via Castel Giubileo, 11
00138 Rome (RM)
Contact center: + (39) 06.164161500 (12 lines PBX)
Fax : +(39) 06.64492025

MILAN Laboratories
Via Enrico Cialdini, 16 (Affori Centre)
20161 Milan (MI)
Contact center: + (39) 06.164161500 (12 lines PBX)
Fax : + (39) 02 39297627

E-mail
info@laboratoriogenoma.eu

Website
http://www.laboratoriogenoma.eu

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