smMIP based NGS assay for diagnosis of common treatable genetic disorders in India
India currently lacks a national newborn screening (NBS) program despite an estimated 11,500 infants being born annually with screenable inborn errors of metabolism. Conventional biochemical screening methods, while effective, require sequential confirmatory testing and are limited by false-positive and false-negative results, leading to delays in diagnosis and treatment. Although whole-exome and whole-genome sequencing offer improved diagnostic yield, their high cost and challenges in variant interpretation limit their utility for population-scale screening. To address these limitations, we developed an affordable, targeted, high-throughput sequencing assay based on single-molecule molecular inversion probe (smMIP) technology, targeting 32 genes associated with 21 clinically actionable neonatal disorders relevant to the Indian population.
India currently lacks a national newborn screening (NBS) program despite an estimated 11,500 infants being born annually with screenable inborn errors of metabolism. Conventional biochemical screening methods, while effective, require sequential confirmatory testing and are limited by false-positive and false-negative results, leading to delays in diagnosis and treatment. Although whole-exome and whole-genome sequencing offer improved diagnostic yield, their high cost and challenges in variant interpretation limit their utility for population-scale screening. To address these limitations, we developed an affordable, targeted, high-throughput sequencing assay based on single-molecule molecular inversion probe (smMIP) technology, targeting 32 genes associated with 21 clinically actionable neonatal disorders relevant to the Indian population.