Service
Newborn Screening
Comprehensive genetic screening to support newborn health and development
Key advantages
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Early identification of treatable genetic, metabolic, and endocrine disorders
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Enables prompt clinical intervention to prevent serious health issues
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Non-invasive sampling via dried blood spots (DBS)
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High sensitivity and specificity through genomic sequencing and biochemical assays
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Supports a wide panel of disorders including PKU, CF, SMA, and hemoglobinopathies
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Improves long-term health outcomes and reduces healthcare costs
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Integration with clinical follow-up and genetic counseling services
Technical specifications
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Sequencing coverage: Targeted panel or whole genome sequencing at clinical-grade depth (30X)
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Variant detection: SNPs, Indels, CNVs in disease-associated genes
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Bioinformatics pipeline: Automated variant calling, filtering, and classification aligned with newborn screening guidelines
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Data output: FASTQ, BAM, VCF, and detailed interpretive reports
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Platforms: Illumina NovaSeq 6000, Illumina NovaSeq X Plus, MGI DNBSEQ-T7, and beyond
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Sample type: Dried blood spots (DBS)
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Turnaround time: Rapid processing, generally within 2-4 weeks