Family & Pregnancy

Newborn Screening

Genetic screening performed shortly after birth to enable early identification of hereditary and treatable diseases in newborns.

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Description

Newborn screening aims to detect serious inherited conditions before symptoms occur, allowing early treatment and prevention of permanent complications. The test is typically performed using a simple heel-prick blood sample and analyzed with modern genetic and biochemical methods such as NGS, PCR, or enzyme-based assays.

This represents an advanced evolution of traditional newborn screening programs, where genomic DNA analysis provides significantly broader coverage and higher diagnostic precision. Depending on the selected panel, screening may include metabolic, endocrine, immunological, neuromuscular, and hematological disorders that are treatable when detected early.

Advanced genetic panels enable analysis of hundreds of genetic conditions, supporting the goal of early diagnosis, rapid intervention, and normal development for affected newborns.

FOR LABORATORIES

We offer comprehensive early-life screening using advanced Next-Generation Sequencing (NGS) technology to detect a broad range of inherited metabolic, endocrine, and genetic conditions. Early identification enables timely medical intervention, improved disease management, and better long-term health outcomes.

Benefits

Enables early detection of treatable genetic disorders
Allows timely medical intervention before symptoms develop
Minimally invasive sample collection using a validated method
High diagnostic coverage through advanced genetic technologies
Improves long-term health outcomes and prognosis
Adaptable to national, extended, or premium screening programs

Process

Sample collection is typically performed via a heel prick 24–72 hours after birth, where a few drops of blood are applied to filter paper. The sample is then sent to the laboratory for further analysis, using either DNA extraction or enzymatic testing depending on the selected methodology.

Analysis is performed using technologies such as Next Generation Sequencing (NGS), PCR-based genetic testing, or in some cases whole exome sequencing (WES). These methods provide greater precision and broader detection capabilities compared to traditional screening approaches.

FOR LABORATORIES

Specimen Requirements

Preferred Specimen

  • 2–4 mL peripheral whole blood collected in EDTA anticoagulant tube

Alternative Specimen

  • Purified genomic DNA
    • Minimum quantity: 1 µg
    • Concentration: 100–250 ng/µL
    • Buffer: TE, AE, or sterile nuclease-free water
    • Purity: A260/A280 ratio 1.8–2.0
    • Integrity: High molecular weight DNA verified by agarose gel electrophoresis (single intact band, no degradation)
    • Submission should include quantitative DNA marker confirmation

Suboptimal specimens may delay processing or require recollection.

Turnaround Time (TAT)

  • 6–9 weeks from receipt of acceptable specimen and completed documentation.

Clinical Focus

This screening panel includes disorders within the following categories:

  • Amino Acid Metabolism Disorders
    Conditions affecting the breakdown and utilization of amino acids, such as phenylketonuria (PKU) and related metabolic abnormalities.
  • Fatty Acid Oxidation Disorders
    Inherited conditions impairing the body’s ability to convert fats into energy, particularly during fasting or illness.
  • Organic Acidemias
    Metabolic disorders characterized by the accumulation of organic acids due to enzyme deficiencies.
  • Endocrine Dysfunctions
    Genetic conditions affecting hormone production and regulation, including congenital adrenal and thyroid disorders.

How it works

Once the sample reaches the laboratory, genetic and/or biochemical analysis is conducted based on the selected disease panel. Identified genetic variants are interpreted by specialist laboratories with clinical expertise.

The results are compiled into a report and delivered to the responsible healthcare provider or neonatal unit. When findings are identified, newborn screening enables immediate follow-up, confirmatory diagnostics, and early treatment to optimize health outcomes and developmental trajectories.

FOR LABORATORIES

Methodology

Technology Platform:

  • Massively Parallel Sequencing (Next-Generation Sequencing, NGS)

Genomic Coverage:

  • Full coding regions (exonic sequences)
  • Exon–intron boundaries (± defined bp according to panel design specifications)

Variant Types Detected:

  • Single Nucleotide Variants (SNVs)
  • Small insertions and deletions (indels)
  • Copy Number Variations (CNVs) via read-depth analysis

Bioinformatics Pipeline:

  • Alignment to reference genome (GRCh37 or GRCh38, as specified in report)
  • Variant calling using validated clinical-grade pipelines
  • CNV detection based on normalized read-depth algorithms
  • Variant annotation according to HGVS nomenclature

Variant Classification:

  • Interpreted and classified in accordance with ACMG/AMP guidelines
  • Reported categories: Pathogenic, Likely Pathogenic, VUS (if applicable per reporting policy)
Newborn Screening
Consultation for clinics