HomeOur ServicesDiagnostic Services

Genome Foundation offers a variety of diagnostic services with the aim to deliver evidence based medical diagnosis using modern molecular biology techniques. The test results provide information that helps shed light on whether or not a disease is present, has progressed, or has changed its course so that a judgment can be made on what treatment regimen might be most appropriate for a particular patient at a given time.

Our team comprises both medically and doctorate qualified staff. We are available for consultative services regarding laboratory testing, result interpretation, and unexpected results. Please contact us when unusual cases are encountered and special testing arrangements are required.


Molecular Diagnostics Services

Molecular Diagnostic tests which identify genetic mutations/variations in an individual – These include Monogenic Disorders such as Beta Thalassemia, Sickle Cell Anemia, Mal de Melade Syndrome, LHON, MTHFR gene polymorphisms, DPYD, etc. 

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Pre-natal Screening Services

Prenatal screening services of genetic disorders are offered to women during pregnancy – These include Double, Triple, Quadruple, Penta marker tests, targeted NIPT tests, etc. 
NIPT tests analyzes cell-free fetal DNA that is circulating in maternal blood for prenatal screening of trisomies of 13, 18 & 21 chromosomes and sex-chromosome linked aberrations. 
The accuracy of these tests is dependent on quality of the sample collected and used for analysis. The biggest advantage of NIPT tests is that it is non-invasive in nature and helps in early detection of chromosomal aneuploidies. 

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Cytogenetics (Chromosomal Analysis)

Cytogenetics (Chromosomal Analysis) looks for changes/abnormalities present on the chromosomes of an individual. These can include structural differences as well as numerical differences – These include Karyotyping from blood, fibroblasts, amniotic fluid, CVS, etc. 

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Molecular Cytogenetic Analysis (FISH)

FISH = Fluorescence In Situ Hybridization – This molecular technique enables technicians and researchers to visualise and highlight specific genes/parts of genes on an individuals’ chromosomes. These highlighted genes are used to understand chromosomal aberrations and abnormalities 

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Chromosomal Microarray Analysis

Chromosomal Microarray Analysis helps detect chromosomal deletions, duplications and insertions in on a chromosome. It is done by comparing the hybridization intensities of the suspected samples against a control. 

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Genome-wide Sequencing Tests

Comprehensive genetic data and parallel processing enables researchers and clinicians to identify inherited disorders/diseases along with tracking mutations – These include NIPT, CES, WES, Epilepsy panel, BRACA 1 & BRACA 2, Hemophilia panel, Skeletal Dysphasia panel, etc. 

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Pharmacogenetics deals with how variation in a single gene affects the response of an individual to a single drug. Currently we are testing for Warfarin, Clopidogrel, Carbamazepine, Statins, Gefitinib, Thromobosis panel, etc. 

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Sanger Sequencing

Sanger Sequencing services are offered to students, research scholars and experts to help identify their chosen DNA sequences, that is to identify every base present in their chosen DNA sequence and the order in which the bases are. 

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Former Dean, Life Sciences, University of Hyderabad, and Founder NIAB with over 40 years of experience in research of chronic inflammatory diseases such as allergy, asthma, autoimmune diseases, rheumatoid arthritis, prostatitis, nephritis, mastitis, cancer and drug discovery. 

Former Professor and Head, Dept of Anatomy, Osmania Medical College, with doctorate in Genetics and over 30 years of experience in serving the patients. Founder - Convenor of “OSMECON” (2000+ delegates annually from over 90 medical colleges) 

Having 12 years of experience as Paediatric Geneticist. Working at Suraksha, Ankura hospital, LifeCell and Utage Neurology Centre as Consultant Medical Geneticist. Worked at Kamineni Hospitals as Consultant Pediatrician & Medical Geneticist. 

Chief Paediatric Geneticist with several decades of experience in treating patients suffering from rare genetic disease. A trendsetter for Newborn screening in India and preventable causes for mental retardation in India with over 100 research publications. 

Former Director, AP Medical Services

Urogynaecologist with over 40 years of experience and research experience in clinical research including Stem Cells.

Consultant Paediatric Geneticists

Well-known fetal medicine specialist for her specialized skills in improving IVF success rate through use of modern technology with over 25 years of experience in treating PCOD and menstrual problems. 

Institute of Reproductive Medicine

Highly accomplished and reputed Cytogenetist with over three decades of experience. She specialises in Human and Molecular Cytogenetics.

Professor & HOD (Retd) in Genetics, Department of Genetics, Osmania University

Highly reputed geneticist with 31 years of teaching experience having research background in Molecular basis of cancer, Mechanism of gene expression in Human Diseases, with ober 137 research publications.

Consultant Gynaecologists with prenatal sampling

Professor, Biochemical Genetics & Molecular Anthropology Laboratory,

Department of Anthropology, Delhi University, Delhi;

Highly reputed geneticist with over 35 years of experience having extensive research background in Genomics of Complex Diseases and Human Genome Diversity of the Indian Population, with over 100 research publications of impact.

Dr. Rao R. Kosaraju is an allergist-immunologist in Fremont, California. He received his medical degree from Guntur Medical College NTR and has been in practice for more than 20 years. 

Mr J Satyanarayana, (JS) is a thought leader in the areas of e-Governance, Enterprise Architecture and Digital Transformation, and a pioneer in the design and implementation of e-Governance projects and programs in India. He has had a successful career as a civil servant for over 40 years, having held distinguished positions at the national and provincial levels, including Secretary, Department of Electronics & IT, Government of India and Chairman, Unique Identification Authority of India. 

Research Scientist with 10+ years of research experience while working at Baylor College of Medicine Houston TX, and Michael. E .Debakey  Veterans Affairs Medical Center Houston TX. She graduated with Masters Degree from University of Pennsylvania, Philadelphia.

Dr. A. Veerabhadra Rao is retired from CSIR-CCMB as Deputy Director and he worked in various positins. His research area is Cancer Biology and CRISPR Technologies. 

Dr. N N Khanna is a Graduate of King George's Medical College, Lucknow. After completing his MD (Medicine) and DM (Cardiology), he went abroad for advanced Fellowship Training in Cardiology, Coronary & Vascular Interventions at Ochsner Medical Foundation, New Orleans, USA and at Poly-Clinique-des-Essey, France under eminent Cardiologists - Dr. Christopher J White, Dr. Steve Ramee and Dr. Michel Henry. He underwent advanced training on Percutaneous Aortic Valve Implantations, Heart Failure Devices and Radio-frequency Ablation for sympathetic denervation of renal arteries. He has authored 27 book chapters and has about 120 publications in various national and international journals to his credit. 

Dr Gandhi P C Kaza is the current Managing Director of Genome Foundation. He is Founder Chairman of Truth Labs, India’s first independent People’s Forensic Science Lab. He also currently serves as an Advisor to the West Bengal Government and Jammu & Kashmir Government. He has served previously as IG of Police and Director of APFSL. He has extansive knowledge about the criminal justice system. He is a pioneer in the application of forensic science for crime detection. He has trained thousands of judicial, corporate, vigilance and security officers regarding forensic crime detection and investigation. He has made forensic analysis and investigation accessible and understandable for the layman.