Noida: Post Graduate Institute of Child Health (PGICH), Noida, has received approval to introduce six additional in-house genetic tests, expanding its diagnostic facilities for children and families.PGICH director Dr A K Singh said the expanded facilities would help ensure timely diagnosis and appropriate clinical management.The six new tests include Fragile X syndrome, F508 mutation analysis for cystic fibrosis, Factor V Leiden mutation, UGT1A1 promoter analysis for Gilbert syndrome, MECP2 hotspot sequencing and testing for achondroplasia. The institute is expected to start accepting samples for these tests shortly.The addition will supplement the already available genetic tests at the institute, including targeted Sanger sequencing, QF-PCR for aneuploidy detection, thalassaemia testing and spinal muscular atrophy testing.Dr Mayank Nilay, head of the department of Medical Genetics, said expanding in-house testing would make genetic diagnosis more accessible and affordable.“Timely and accurate genetic diagnosis can significantly impact clinical management, genetic counselling and future reproductive planning,” he said.
