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Validation

A collection of 3 posts

Synthetic cfDNA for Microdeletion and Microduplication Screening: 26 CNV Conditions

Synthetic cfDNA for Microdeletion and Microduplication Screening: 26 CNV Conditions

When NIPT expanded beyond trisomies, it entered far more challenging territory. Detecting a whole extra chromosome is one thing. Detecting a 3 megabase deletion on chromosome 22? That requires a fundamentally different level of precision - and validation materials that barely exist. At Eabha Genomics, we generate synthetic cfDNA for

Synthetic cfDNA for Monogenic Disorder Screening: 51 Single-Gene Conditions

Synthetic cfDNA for Monogenic Disorder Screening: 51 Single-Gene Conditions

The next frontier in prenatal screening isn't chromosomes - it's single genes. As sequencing costs drop and analytical methods improve, NIPT is expanding into monogenic disorders: conditions caused by mutations in individual genes rather than whole chromosome abnormalities. At Eabha Genomics, we generate synthetic cfDNA for

Synthetic cfDNA for Aneuploidy Detection: 14 Chromosomal Conditions, Unlimited Validation Samples

Synthetic cfDNA for Aneuploidy Detection: 14 Chromosomal Conditions, Unlimited Validation Samples

Aneuploidies - whole chromosome gains or losses - are the foundation of prenatal screening. Trisomy 21, 18, and 13 are the conditions every NIPT laboratory must reliably detect. But validation has always faced the same constraint: where do you find enough positive samples to prove your assay works? At Eabha