Dr. Kshitija Patil 

About Dr. Kshitija Patil

Dr. Kshitija Patil is a Medical Geneticist and Pediatrician with over 12 years of experience in paediatric care and a specialised focus on clinical genetics. She independently consults at Apollo Hospitals, Navi Mumbai, and brings to the field an unusual depth — shaped by 14 years in paediatrics before she turned to genetics, driven by a desire to resolve the diagnostic puzzles that standard clinical medicine could not crack. Her qualifications span two countries and multiple disciplines. She holds a DM in Medical Genetics from AIIMS, New Delhi — India's most prestigious postgraduate institution — alongside MRCPCH and DCH credentials from the Royal College of Paediatrics and Child Health, UK, and advanced certifications in Cancer Genomics and Precision Oncology from Harvard Medical School and in Molecular Genetic Analysis from Tata Memorial Centre, Mumbai. She also holds a Fellowship in Clinical Genetics from MUHS. Among her clinical milestones is her involvement with the team that managed India's first child to receive gene therapy for Spinal Muscular Atrophy — a landmark in Indian paediatric genetics that reflects both her clinical environment and her commitment to the frontiers of rare disease care. She is an active contributor to ICMR-funded national research on genetic diagnostic yields, and a frequent speaker and moderator for the Organisation for Rare Diseases India (ORDI).

Areas of Expertise

Oncogenetics and Precision Oncology Specialist in somatic NGS interpretation and hereditary cancer risk assessment — with advanced training from both Harvard Medical School and Tata Memorial Centre. Her approach integrates molecular insights into personalised cancer surveillance and management decisions for patients and families. Neurogenetics and Rare Diseases Expert diagnosis of neurodevelopmental disorders and adult-onset genetic conditions, including Huntington's disease. With over a decade of paediatric experience preceding her genetics training, she brings a depth of clinical context to neurodevelopmental evaluations that few specialists can match. Prenatal Genetics High-resolution genetic counselling and diagnostic workup for fetal anomalies and abnormal ultrasound findings — supporting families through complex prenatal decisions with clarity and precision. Inborn Errors of Metabolism (IEM) Comprehensive diagnosis and management of biochemical genetic disorders — from acute metabolic presentations to long-term care planning for chronic conditions. Skeletal Dysplasia Specialised evaluation of rare bone growth syndromes — conditions that are frequently undiagnosed or misclassified without genetics specialist input. Gene Therapy and Emerging Therapies Active involvement in advocacy and clinical implementation of gene therapy and emerging treatments for rare diseases — including her role in the management of India's first SMA gene therapy case.

Why Consult Dr. Kshitija Through Genetidoc?

Families dealing with rare diseases in India face a system where specialist access is scarce, diagnostic delays are common, and awareness of emerging therapies is limited. Dr. Patil addresses all three — as a diagnostician, a researcher, and an advocate. Her academic contributions to ICMR-funded research, her platform presence through ORDI, and her international credentials make her one of the most comprehensively qualified clinical geneticists available on Genetidoc's panel. Through the platform, she is available online to families anywhere in India — without the need to travel to Navi Mumbai. If genetic testing is needed, Genetidoc arranges sample collection from the patient's home or nearest clinic, with processing at NABL and CAP accredited partner laboratories.

Consultation Details

Mode: Online (Video / WhatsApp) Languages: Marathi, Hindi, English Available: By appointment, nationwide for online consultation Sample Collection: Home pickup available across India

About Genetidoc

Genetidoc is India's largest network of online genetics specialists. The platform connects patients and families across India with qualified genetics doctors for consultations, counselling, and DNA testing guidance — making expert genetic care accessible, affordable, and personal.