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Newborn genetic screening

More information to take care of from the beginning of life.

Longevo Baby complements the traditional heel prick test by investigating early-onset DNA conditions for which there is prevention, monitoring or established treatment.

Newborn baby wrapped in a blanket
Genetic screening expands information; does not replace the heel prick test.
Scope
More than 200 conditions
Sample
Mouth swab
Deadline
Up to 20 days*
Purpose
Early, actionable care

Complementary screening

Genetics and biochemistry answer different questions.

The heel prick test looks for biomarkers in the blood. Longevo Baby reads genes related to conditions that may not produce a detectable marker in conventional screening. Together, the methods expand the opportunity for early recognition.

01 · Complementary

Does not replace the heel prick test

Biochemical testing remains essential to identify metabolic and hormonal changes already incorporated into neonatal screening.

02 · Genetic

Looks for changes in DNA

The analysis includes nuclear and mitochondrial DNA, deletions, duplications and intronic variants known to be pathogenic, within the technical scope.

03 · Clinical

Prioritize actionable conditions

The report focuses on conditions with validated management, reducing information that is not immediately useful for pediatric care.

Evidence on newborn screening

Studies show diagnoses beyond conventional screening.

Results vary depending on population, panel and analysis criteria. They demonstrate the complementary nature of sequencing, not a universal replacement for biochemical screening.

GUARDIAN · United States

4,000 babies evaluated

The study found treatable diseases identified only by genetics and diagnoses outside of traditional screening.

BabyDetect · Belgium

165 diseases monitored

Among 71 genetic diagnoses, 30 would not be detected by the conventional screening presented in the study.

BabySeq · Boston

Randomized study

Sequencing identified pathogenic variants missing from standard testing and reinforced how the methods can work together.

Screening time

Who can Longevo Baby be considered for?

Screening can be discussed for newborns and children up to the first year of life. Family history or clinical signs may require a different diagnostic strategy and specific medical evaluation.

01 · Newborns

Babies without symptoms

Complementary screening to early recognize conditions with the possibility of prevention or treatment.

02 · Family history

Families with a genetic condition

History can guide screening, but a targeted examination or diagnosis may be more appropriate on a case-by-case basis.

03 · Up to 1 year

Screening in the first year of life

Slightly older children may still benefit when the pediatrician considers the information clinically useful.

Clinical coverage

462 genes associated with more than 200 conditions.

The complete list must be confirmed in the current version of the panel and in the test request.

Download gene list

Immunodeficiencies

SCID, DOCK8, CGD, IFN-γ defects and combined immunodeficiencies.

Heart diseases

Hereditary arrhythmias, cardiomyopathies and early structural changes.

Hematology and coagulation

Hemophilia, thalassemia, hereditary anemia and factor deficiencies.

Gastrointestinal and nutrition

Congenital diarrhea, malabsorption and vitamin metabolism disorders.

Growth, bones and energy

Osteogenesis imperfecta, osteopetrosis, short stature and bone mineralization disorders.

Test day

From sample collection to care.

A structured flow to transform your baby's sample into useful clinical information.

  1. 01

    Initial guidance

    The team confirms clinical data, age and sample collection requirements.

  2. 02

    sample collection kit

    Kit and instructions are sent for safe sample collection at home.

  3. 03

    Buccal sample

    sample collection is carried out with a mouth swab, in a simple and painless way.

  4. 04

    Genetic analysis

    The genes on the panel are processed and the findings undergo expert review.

  5. 05

    Report and guidance

    The result organizes the applicable findings and recommendations.

* Deadline of up to 20 days after receipt and acceptance of the sample by the laboratory.

Frequently asked questions

Before sample collection.

Does Longevo Baby replace the heel prick test?+

No. Longevo Baby complements biochemical screening. Each method identifies different types of changes, and the heel prick test must be carried out according to pediatric guidance.

What conditions are evaluated?+

The panel brings together more than 200 early-onset conditions with possible management, including immunological, cardiological, hematological, metabolic and neuromuscular groups.

How is sample collection done?+

The sample is collected with a swab from the inside of the mouth. The kit includes instructions and packaging for traceable return to the laboratory.

What happens if there is a relevant finding?+

The report describes the finding and the team guides the discussion with the pediatrician, confirmation when necessary and the next clinical steps.

Does a negative result rule out all genetic diseases?+

No. The test is limited to the genes, variants and conditions defined in the panel and has technical limits. Symptoms or relevant history should be evaluated by the pediatrician regardless of the result.

When will the report be ready?+

Within 20 days after receipt and acceptance of the sample. Situations that require new sample collection may change this deadline.

Take care from an early age

Understand if Longevo Baby makes sense for your family.

Our team explains the scope, the relationship with the heel prick test and the entire sample collection process.

Catalog information

Technical data of Longevo Baby

Complements newborn screening with genetic investigation of selected actionable conditions.

Applications
Newborn screening
Accepted samples
peripheral blood, Mouth swab (preferred), DNA extraído
Estimated deadline
20 calendar days, contados após sample acceptance.
Methodology
Sequencing e análise de painel genético neonatal a partir de DNA obtido de material biológico aceito.
Analytical scope
462 genes associated with more than 200 selected actionable conditions, including immunological, cardiological, hematological, metabolic and neuromuscular groups.
Medical request
Required

Requirements

Confirmation de dados clínicos, idade e requisitos de coleta; amostra recebida e aceita pelo laboratório.

Limitations

It does not replace the heel prick test. It is limited to the genes, variants and conditions defined in the current version of the panel and has technical limits.