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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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Redcliffe Labs' Novel Research: Penta Marker Test Improves Pregnancy Risk Screening with 36% Fewer False Positives
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 screening. Conventional screening classified 17 women as high-risk , compared with 11 women using Penta Marker screening. The research also highlighted Penta Marker screening's potential for early identification of pre-eclampsia risk . The Penta Marker Test provided results within 3 days , supporting faster clinical decision-making. The research was published in the International Journal of Scientific Research .
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…
Published October 2026Read moreGenetic Testing Identified Tay-Sachs Disease Despite Normal Prenatal Ultrasound
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 ultrasound. The case involved a 30-year-old woman at 19 weeks of pregnancy with a significant family history of unexplained childhood illness and deaths, including two previous daughters who died in childhood and another daughter with seizures and global developmental delay. Given the history of consanguinity and suspected inherited disease, clinicians pursued genomic evaluation despite the reassuring prenatal ultrasound. Whole-exome sequencing (WES) of both parents followed by Sanger sequencing of the fetus identified disease-causing variants in the HEXA gene, confirming the diagnosis of Tay-Sachs disease. The case highlights how detailed family history, genetic counseling, and advanced genomic testing can complement routine prenatal investigations when an inherited disorder is suspected.
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 HimaniPublished 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