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Short-Read Sequencing 

NBSure™
Newborn Genetic Screening

Standardized NGS Panels Designed to Complement Biochemical Assays for Timely, Comprehensive Neonatal Care

Switch to NGS: Overcoming Biochemical Limitations

While biochemical newborn screening (NBS)  has been widely implemented in most countries, it faces inherent limitations, including false-positives and an inability to detect conditions lacking definitive biochemical markers in the neonatal stage.

 

NBSure™ complements traditional biochemical assays by utilizing NGS technology. It significantly expands the screening scope to include relatively high-incidence conditions that are clinically actionable in early childhood, allowing for timely management and treatment.

Key Advantages:

  • Expanded Scope: Screens for conditions undetectable by biochemical markers (e.g., SCID, SMA)

  • High Specificity: Reduces false-positives caused by transient physiological factors

  • Late-Onset Detection: Identifies variants associated with conditions presenting later

Target Population

Designed for healthy newborns (phenotypically normal, no family history) to be performed alongside conventional biochemical NBS. This dual approach minimizes recall rates and shortens time to diagnosis.

Use with Caution

This test should be used with caution for newborns with a family history of genetic disease, abnormal clinical phenotypes, or abnormal examination findings. As the causative factors for these complex cases may lie outside the scope.

Advanced Extension with LRS

To overcome the technical limitations of standard NGS, we offer further LRS testing for challenging genomic regions:

21-OHD (CYP21A2): Resolves pseudogene interference for accurate variant calling
Thalassemia (HBA1/2, HBB): Enhanced detection of structural variants (SVs) and deletions
SMA (SMN1): Copy number analysis beyond the standard exon 7 marker

  • Detects pathogenic or likely pathogenic variants in 82 genes associated with single gene disorders  presenting with a jaundice phenotype.

  • Detects pathogenic or likely pathogenic variants in 57 genes associated with 72 inherited metabolic diseases

    • Amino Acid Metabolism Disorders (29)

    • Organic Acid Metabolism Disorders (21)

    • Fatty Acid Metabolism Disorders (22)

  • Detects pathogenic or likely pathogenic variants across 358 genes associated with 411 single gene disorders

    • Amino Acid Metabolism Disorders (41)

    • Organic Acid Metabolism Disorders (39)

    • Fatty Acid Metabolism Disorders (18)

    • Lysosomal Storage Diseases (29)

    • Other Endocrine and Metabolic Disorders (94)

    • Immune Diseases (32)

    • Mitochondrial Disorders (3)

    • Hematologic Disorders (26)

    • Digestive Diseases (4)

    • Urologic Diseases (2)​

    • Neuromuscular Disorders (32)

    • Skin Disorders (26)

    • Skeletal Disorders (18)

    • Ophthalmologic and Otorhinolaryngologic Diseases (43)

    • Paediatric Tumours (2)

    • Respiratory Disease (1)

    • Cardiovascular Disease (1)

    >>Download Full Gene/Condition List

  • Detects pathogenic or likely pathogenic variants across 737 genes associated with 1,264 single gene disorders 

Reporting: Pathogenic (P) and Likely Pathogenic (LP) variants (SNVs in exons and ±5 bp exon–intron boundaries; InDels <50bp in exon; selected CNVs in DMD, SMN1, or HBA1/2 genes (if included in panel)) within the scope are reported.​ Carrier status for autosomal recessive and X-linked recessive conditions is not reported.

Panels

Technological Strength & Custom Solutions

Powered by our proprietary eWES™ library and WESisi™ analysis system, our platform provides a robust foundation for best-in-class reporting and flexible panel design.

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Xcelom Limited and Berry Genomics offer tailored solutions for institutions wishing to develop their own send-out panels or implement workflows into their in-house labs. Please contact us for consultation.

eWES™ Library

This PCR-free library enhances the uniformity of sequencing coverage by significantly reducing amplification bias, optimizing detection performance

WESisi™ Analysis

Best-in-class bioinformatics serve as the basis for high-quality clinical interpretation of genomics data for selected targets

Explore

Ordering

When considering our send-out sequencing services:

  1. Contact our team for the most up-to-date test details.

  2. Check sample and shipment requirements before sending out to guarantee result quality. Also verify export requirements and your logistics partner.

  3. Contact Xcelom when placing any order along with a completed Test Request and Consent Form, any required QC data and other required document.

Sample Requirements

Peripheral Blood: 2 mL in EDTA tube

Dried Blood Spot (DBS): 3 spots, ≥ 8mm diameter each

Cord Blood: 1 mL in EDTA tube, collect ~1–2 cm from the newborn

gDNA

Transport Conditions

2-8℃, arrive within 72 hours

Turnaround Time

15 working days

Resources

Brochure

References:

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