Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India
Priyanka Gangodkar, Vaman Khadilkar, P. Raghupathy, Rakesh Kumar, Archana Arya Dayal, Devi Dayal, Ahila Ayyavoo, Tushar Godbole, Rahul Jahagirdar, Kavitha Bhat, Neerja Gupta, Sadishkumar Kamalanathan, Sujatha Jagadeesh, Shatakshi Ranade, Nikhil Lohiya, Rashmi Lote - Oke, Karthik Ganesan, Kavita Khatod, Meenal Agarwal, Nikhil Phadke, Anuradha Khadilkar
Topics & Concepts
Congenital adrenal hyperplasiaMultiplex ligation-dependent probe amplificationMultiplexAmpliconGeneticsBiologyConcordanceDNA sequencing21-HydroxylaseGeneMolecular biologyPolymerase chain reactionExonSexual Differentiation and DisordersPharmacogenetics and Drug MetabolismGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities