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\n[https://doi.org/10.1007/s12098-026-06137-5](https://doi.org/10.1007/s12098-026-06137-5)  \nPOSITION STATEMENT  \nPosition Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing  \nPrajnya Ranganath1 · Sankar VH2 · Kausik Mandal3 · Meenal Agarwal4 · Priya Ranganath5 · Devi Saranya S6 · Veronica Arora7 · On Behalf of the Executive Committee of the Society for Indian Academy of Medical Genetics (SIAMG)  \nReceived: 22 February 2026 / Accepted: 25 March 2026 / Published online: 24 June 2026 © The Author(s), under exclusive licence to Dr. K C Chaudhuri Foundation 2026  \nAbstract  \nThe genetic diagnostic armamentarium includes a host of different genetic tests, each with their own set of indications, resolution, coverage, diagnostic utility and limitations. It is essential for all medical practitioners to have some basic knowledge about the principles, indications and interpretation of these tests. This position statement of the Society for Indian Academy of Medical Genetics (SIAMG) provides guidelines and recommendations regarding the use of cytogenetic and molecular cytogenetic tests in clinical practice.  \nKeywords Position statement · Society for Indian Academy of Medical Genetics (SIAMG) · Cytogenetic testing · Molecular cytogenetic testing · Karyotyping · QF-PCR · FISH · MLPA · Chromosomal microarray  \nBackground and Rationale  \nGenetic disorders represent a significant and often underrecognized public health concern in India, a country marked by vast genetic diversity, high birth rates, and high prevalence of consanguinity in certain regions. Major congenital anomalies occur in about 2–3% of live births and thus posea significant public health burden [1, 2] . In the past two to  \n􀀍 Prajnya Ranganath[prajnyaranganath@gmail.com](prajnyaranganath@gmail.com)  \n1 Department of Medical Genetics, Nizam’s Institute of Medical Sciences (NIMS), Hyderabad, India  \n2 Department of Medical Genetics, SAT Hospital, Government Medical College, Thiruvananthapuram, India  \n3 Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow, India  \n4 Department of Medical Genetics, KEM Hospital, Pune, India  \n5 Department of Clinical Genetics, Apollo Hospital, Bengaluru, India  \n6 Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India  \n7 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India  \nthree decades, advances in genetic testing—particularly next-generation sequencing and chromosomal microarray—have transformed clinical practice by enabling earlier and more accurate diagnosis of a wide range of genetic conditions. These technologies support informed decision-making, guide personalized management strategies, and have become integral to almost all medical fields. Therefore, it is important for all clinicians to understand the basic concepts of medical genetics, and to obtain knowledge about the principles, indications, analysis and interpretation of genetic testing techniques which can be put to use in day-today clinical practice.  \nTarget Audience  \nThis position statement of the Society for Indian Academy of Medical Genetics (SIAMG) on cytogenetic and molecular cytogenetic testing is intended as a source guide for abroad range of stakeholders involved in the care, diagnosis, and management of individuals with genetic disorders in India. These include clinical geneticists, pediatricians, obstetricians, fetal medicine experts, neurologists, physicians, laboratory specialists, genetic counselors, and other healthcare professionals who encounter genetic conditions and order genetic tests in their practice. It is also relevant  \nfor other non-physician stakeholders including policymakers, medical educators, researchers, and institutional administrators involved in shaping genetic services, curriculum, ","cbCaihYfvjIYbIkM","https://ap.wps.com/l/cbCaihYfvjIYbIkM","pdf",632809,11,"English","# Abstract\n# Background and Rationale\n# Target Audience\n# Definitions\n# Current Evidence and Practice\n## Karyotyping\n## Molecular Cytogenetic Testing\n## Molecular Genetic Testing","[{\"question\":\"What is the purpose of this SIAMG position statement?\",\"answer\":\"It provides guidelines and recommendations for the use of cytogenetic and molecular cytogenetic tests in clinical practice, helping clinicians apply and interpret these tests appropriately.\"},{\"question\":\"Which types of tests are discussed and how are they categorized?\",\"answer\":\"The statement groups genetic testing techniques into cytogenetic tests, molecular cytogenetic tests, and molecular genetic tests, each targeting different scales of genomic variation.\"},{\"question\":\"Why is understanding test principles and interpretation important?\",\"answer\":\"Because each genetic test has specific indications, resolution, coverage, and limitations, and correct interpretation is essential for accurate diagnosis and clinical decision-making.\"}]","Position Statement of the Indian Academy of Medical Genetics on Cytogenetic and Molecular Cytogenetic Testing | PDF",1790461439,28]