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After a prenatal diagnosis of Edwards syndrome, a couple chose to continue the pregnancy, not out of denial, but shaped by years of infertility, IVF, and subtle societal humiliation. Read More
Learn how QF-PCR helps detect sex chromosome aneuploidies like Turner syndrome, Klinefelter syndrome, and XYY. This article explains key markers like AMELXY, SRY, T1, T3, and X-STRs in simple terms with a focus on clinical interpretation. Read More
Families of children with rare genetic disorders often face not just medical challenges, but social isolation. This clinic reflection explores how fear of stigma, marriage prospects, and caregiving burden can silently fracture joint families leaving young parents to carry the weight alone. Read More
A reflection by a DM Medical Genetics trainee on shifting from risk-based counseling to compassion, hope, and inclusion in prenatal diagnosis. Read More
Learn how to use SYBR Green qPCR to detect heterozygous gene deletions. Step-by-step guide with data analysis, interpretation, and troubleshooting tips for polymorphic dropout. Read More
Learn how to validate heterozygous gene deletions using SYBR Green-based qPCR. Step-by-step guide with melt curve analysis, and ΔCt/ΔΔCt interpretation. Read More
A beginner-friendly guide to FATHMM, an in silico tool that uses Hidden Markov Models to predict the pathogenicity of missense variants. Learn how it works, how it's different from deep learning tools, and its clinical applications. Read More
PrimateAI is an AI tool developed by Illumina in 2018 to predict the pathogenicity of missense mutations using primate genetics and deep learning. This beginner-friendly guide explains how it works and why it matters. Read More
Learn how to use the NanoDrop 2000 spectrophotometer to accurately measure DNA concentration and assess sample purity. Understand the principles of absorbance photometry, key wavelength choices (260, 280, 230 nm), and how to interpret 260/280 and 260/230 ratios. Read More
Learn how the Benedict’s test helps detect reducing substances in urine, including glucose, galactose, and fructose. Understand its chemical basis, clinical uses in metabolic disorders, and how to interpret results effectively. Read More