Dr. Kanika Singh

Consultant - Clinical Genetics & Pediatrics Paediatrics



Exome & Microarray analysis/interpretation Neurogenetics, Developmental delay, Autism Metabolic disorders Skeletal dysplasias Paediatric Genetics

Genetic testing for adult neuromuscular, metabolic, renal disorders Cancer genetics Cardiac genetics

Genetic counselling Antenatal counselling Fetal anomalies Genetics of Recurrent pregnancy loss and Infertility

Dr. Kanika has completed her MBBS from Lady Hardinge Medical College, Delhi and MD Paediatrics from University College of Medical Sciences, Delhi. Thereafter, she did her superspeciality training in the field of Medical genetics from Sir Ganga Ram Hospital. She has previously worked in Division of Genetics in AIIMS & Maulana Azad Medical College, Delhi. Dr. Kanika Singh, specializes in seeing disorders which may have a genetic basis such as metabolic disorders, developmental delay, autism, severe short stature, neuromuscular disorders, family history of cancer, cardiac problems or early onset diabetes, antenatal counselling, fetal anomalies, recurrent pregnancy loss and infertility. She has in-depth knowledge of analysis and interpretation of genetic testing, exome sequencing and chromosomal microarray.

Medical Qualifications

DNB Super Specialty Medical GeneticsSir Ganga Ram Hospital, Delhi2016-2019
M.D. PaediatricsUniversity College of Medical Sciences and Dilshad Garden, Delhi2012-2015
MBBSLady Hardinge Medical College, Delhi2005-2009

Specialization and Expertise

  • Pediatric genetics & Metabolic disorders
  • Genetic counselling/Antenatal counselling/ fetal anomalies/Recurrent pregnancy loss
  • Adult onset genetic disorders/ Family history
  • Cancer and cardiac genetics

Memberships & Certifications

  • SIAMG (Society of Indian Academy of Medical genetics)
  • SFM (Society for fetal medicine)
  • IAP (Indian Academy of Pediatrics)


  • Singh K, Puri RD, Bijarnia-Mahay S, et al. Clinical and Genetic Profile of Children with Short Stature Presenting to a Genetic Clinic in Northern India. Indian Pediatr. 2022;59(6):463-466 :   1, 2022
  • Singh K, Bijarnia-Mahay S, Ramprasad VL, Puri RD, Nair S, Sharda S, Saxena R, Kohli S, Kulshreshtha S, Ganguli I, Gujral K, Verma IC. NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study. BMC Med Genet. 2020; 21: 216. :   1, 2020
  • Singh K, Saxena R, Parashar R, Bijarnia-Mahay S. Clinical vignette: Hystrix like ichthyosis and deafness syndrome in a toddler. Genetic clinics. 2021; Jan-Mar :   1, 2021
  • Singh K, Puri RD, Bhai P, Arya AD, Chawla G, Saxena R, Verma IC. Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases. J Pediatr. Endocrinol Metab. 2018 Jul 26;31(7) :799-807 :   1, 2018
  • Singh K, Aggarwal A, Faridi MMA, Sharma S. IV Levetiracetam versus IV Phenytoin in Childhood Seizures: A Randomized Controlled Trial. J Pediatric Neurosciences. 2018 Apr-Jun;13(2):158-164 :   1, 2018
  • Arora V, Bijarnia-Mahay S, Kulshreshtra S, Singh K, Puri RD, Verma IC. Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation. Autops Case Rep. 2019 Sep 30;9(4) :   1, 2019
  • Verma IC, Paliwal P, Singh K. Genetic Testing in Pediatric Ophthalmology Indi J e Iatr. 2018 Mar;85(3):228-236 :   1, 2018
  • Book Chapter: Carrier Screening and Genetic Risk Prediction in book: Genetic counselling Clinical and Laboratory approach; Jaypee Publishers :   1,
  • Birjania-Mahay S, Singh K, Verma IC. Planning a healthy baby: The 21st century Way! J Clin Research. 2021;5 (3) :   1, 2021