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Article

Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.

Endocrine - 1 Jan 2021

Gangodkar Priyanka, Khadilkar Vaman, Raghupathy P, Kumar Rakesh, Dayal Archana Arya, Dayal Devi, Ayyavoo Ahila, Godbole Tushar, Jahagirdar Rahul, Bhat Kavitha, Gupta Neerja, Kamalanathan Sadishkumar, Jagadeesh Sujatha, Ranade Shatakshi, Lohiya Nikhil, Oke Rashmi Lote, Ganesan Karthik, Khatod Kavita, Agarwal Meenal, Phadke Nikhil, Khadilkar Anuradha

Abstract excerpt

PURPOSE: Accurate diagnosis is required for management of Congenital adrenal hyperplasia (CAH). The conventional method for detection of mutations in the CYP21A2 gene is targeted capillary sequencing which is labor intensive and has limited multiplexing capability. Next generation sequencing (NGS) provides data with high sequence coverage and depth. Our objective was to develop an accurate NGS-based assay to...

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PMID: 32948948
DOI: 10.1007/s12020-020-02494-z

Genes

CYP21A2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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