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Research Papers
Original research from the pathology, endocrinology and genomics teams at Redcliffe Labs, drawn from the diagnostic data of one of India's largest testing networks.
Most of this work exists because the published reference ranges and prevalence figures used in Indian practice were established elsewhere, on other populations. Where our data disagrees with them, we publish the disagreement and the cohort behind it. Every study lists its sample size, method and limitations in full.
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Rare Pulmonary Myoepithelioma Mimicking Metastatic Lung Cancer
Pulmonary myoepithelioma is a rare lung tumour that can resemble metastatic cancer on imaging. A Redcliffe Labs-supported case report highlights how detailed lung biopsy, histopathology and immunohistochemistry (IHC) helped distinguish a benign pulmonary myoepithelioma from suspected cancer spread.
A 42-year-old woman with a previous history of adenoid cystic carcinoma was found to have multiple nodules in both lungs and along the pleura. Because of her previous cancer history, the lung nodules initially raised…
Dr. Mayanka Lodha SethPublished October 2026Read moreNovel USP18 Gene Mutation Identified in Rare Pediatric Neurological Disorder
A multidisciplinary research team including Redcliffe Labs has identified a previously unreported USP18 gene variant associated with a rare pediatric neurological disorder. The finding represents the first documented report of this USP18-related disorder in India . The research identified the variant c.358C>T (p.Pro120Ser) in the USP18 gene. The case involved an 11-year-old girl with recurrent fever-triggered neurological episodes, seizures, developmental delay, and progressive brain calcifications. Exome sequencing and mitochondrial genome sequencing helped identify the underlying genetic cause after years of unexplained neurological symptoms. The findings were published in Clinical Dysmorphology and add to the limited global understanding of USP18-related disorders.
Overview A multidisciplinary research team including Redcliffe Labs has identified a previously unreported USP18 gene variant associated with a rare pediatric neurological disorder. The finding represents the first…
Published October 2026Read moreMost recent
Rare Pulmonary Myoepithelioma Mimicking Metastatic Lung Cancer
A 42-year-old woman with a previous history of adenoid cystic carcinoma was found to have multiple nodules in both lungs and along the pleura. Because of her previous cancer history, the lung nodules initially raised…
Dr. Mayanka Lodha Seth · 2026
October 2026Novel USP18 Gene Mutation Identified in Rare Pediatric Neurological Disorder
Overview A multidisciplinary research team including Redcliffe Labs has identified a previously unreported USP18 gene variant associated with a rare pediatric neurological disorder. The finding represents the first…
2026
October 2026Redcliffe Labs' Novel Research: Penta Marker Test Improves Pregnancy Risk Screening with 36% Fewer False Positives
Overview Redcliffe Labs' research evaluated Penta Marker screening in 1,159 pregnant women during the first trimester. The study found a 36% reduction in false-positive results compared with conventional first-trimester…
2026
October 2026Genetic Testing Identified Tay-Sachs Disease Despite Normal Prenatal Ultrasound
Overview A Redcliffe Labs-led case report, published in the Iranian Journal of Neonatology , describes the antenatal diagnosis of Tay-Sachs disease despite no major abnormalities being detected on routine prenatal…
Dr Himani · 2026