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Medical Genetics

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Introduction

Medical genetics

With the establishment of the Medical Genetics department at the PGICH, Sector 30, Noida; Now rare disease patients from Gautam Budh Nagar and adjoining districts of western UP will not have to rush to other cities. It is the second Medical Genetics department in the state of Uttar Pradesh after SGPGIMS lucknow and first in western UP. This department caters to the need of patients with rare diseases, Neurodevelopmental delay, Cancer Genetics, and fetal medicine services in this era of molecular medicine and rare disease therapeutics. The department is also actively involved in the diagnosis and management of children with dysmorphology, inborn errors of metabolism, neurogenetic disorders, Osteogenesis Imperfecta, skeletal dysplasia, and newborn screening for rare disorders. The fetal-autopsy procedures, amniocentesis/chorionic villous sampling for prenatal diagnosis are soon to start along with a 10 bedded Inpatient ward. Prenatal and peri-conceptional counseling (couples with recurrent spontaneous abortions/bad obstetric history) is also being undertaken. Special attention is provided to children with neuromuscular disorders and soon the department aims to start Nusinersen and Risdiplam therapy for Spinal Muscular atrophy. The department is also working on various cytogenetic and molecular testing inhouse. Apart from Diagnosis and Management of Genetic disorders, the department is actively involved in Research, academics and training of Clinicians. The department's clinicians and basic scientists will work together to provide the state-of-the-art services in pre and postnatal diagnostics and management of rare disorders including genetic counselling.

Important Links:

Genetic Testing in Pediatrics

Faculty Details
Research Officer

Dr Mayank Nilay

Designation : Associate Professor & Head
Qualifications : MD (Pediatrics) DM (Medical Genetics) PGD-P (Developmental Neurology)
Areas of Interest : Dysmorphology, Inborn errors of Metabolism, Neurogenetic disorders, Neurodevelopmental disorders, Autism Spectrum disorder, Skeletal Dysplasia, Genodermatosis, Next Generation sequencing, and Fetal medicine
OPD Days and Hours : Monday to Saturday (9AM-1PM): Room No. – 06 (Special OPD)
Contact : 0120 2524118


Patient Services

1. Pediatric Genetics

  • Dysmorphology (Chromosomal/Monogenic)
  • Inborn errors of metabolism (IEM)
  • Endocrinological disorders /Disorders of sexual development (DSD)
  • Spinal Muscular Atrophy/Muscular dystrophies
  • Immunological disorders
  • Neurodevelopmental disorders
  • Genetic Hematology (thalassemia, haemophilia, malignancies with familial predisposition)
  • Skeletal dysplasias/ osteogenesis imperfacta/ arthrogryposis
  • Genodermatoses (Epidermolysis Bullosa)
  • Anterior chamber abnormalities, microphthalmia/anopthalmia spectrum/deafness
  • Congenital malformations (cardiac/renal/gastrointestinal)
  • xGenetic diagnosis & counselling for familial cancer syndromes.

2. Reproductive Genetics

  • Diagnosis and management of recurrent spontaneous abortions
  • Diagnosis and management of male & Female infertility
  • Pre-conceptional counselling
  • Diagnosis and management of pregnancy with bad obstetric history
  • Diagnosis and management of pregnancy with previous child having genetic disorder e.g. thalassemia, haemophilia, Down syndrome, other rare disorders.
  • Carrier screening for common genetic disorders such as beta thalassemia screening, fragile X Syndrome and spinal muscular atrophy

3. Fetal Medicine

  • Genetic counselling and management of structural anomalies detected in antenatal ultrasound scan
  • Aneuploidy screening
  • Prenatal testing for high risk for aneuploidy screening and previous child with genetic disorders/in carrier of genetic disease by chorionic villous sampling and amniocentesis
  • Fetal Autopsy
  • Counselling and management of pregnancy with history of exposure to teratogenic agents (drugs, radiation, virus etc.)

4. Lab Genetics

  • Karyotyping
  • PCR and Sanger sequencing
  • MLPA
  • Newborn screening by TMS/GCMS
  • Cytogenetic Microarray
  • Next Generation Sequencing (Whole Exome/Clinical Exome)


Cashless Scheme Available

Cashless scheme available (like Ayushman Bharat scheme): As per PGICH hospital rules.


Details of Service charges

  1. MLPA for spinal muscular atrophy: Rs 3565
  2. Sequencing for Beta Thalassemia: Rs 4050
  3. Sequencing facility per exon of a gene: Rs 1055
  4. Sanger Sequencing facility for whole exome identified variant: Rs 3300
  5. Quantitative fluorescent (PCR) for trisomies (Aneuploidy detection): Rs 3670

2nd Scientific Symposium (on 23rd July 2022)

Scientific symposium was organised by Medical Genetics department at PGICH, Noida on 23rd July 2022. The theme of the symposium was Neurogenetic Disorders. The Medical Genetics department of the Institute organizes such scientific sessions for doctors across the country, every 3months which involves expert speakers in the field. The invited speakers from the field of Medical Genetics included Dr Poonam Gambhir (Kanpur), Dr. Moni Bhatia (Rohtak), Dr. Meenal Aggarwal (Director, Medgenome Labs, Bangalore), Dr. Shivani Mishra (Dhanbad) and Dr. Ravneet Kaur (Chandigarh). Read More

Scientific Symposium (on 23rd April 2022)

Scientific symposium was organised by Department Of Medical Genetics and department of Pathology at Post Graduate Institute of Child Health on 23/04/2022; this was a truly international meet as participants from outside India had also joined online. Around 300 doctors across the country and worldwide joined this session held in hybrid mode (offline/online). The speakers included Dr Sheetal Sharda (Ahmedabad), Dr Meenakshi(Chandigarh), Dr Anup(Mumbai), Dr Aradhana (Delhi) and Dr Mayank Nilay and Dr Jyotsna Madan(Dean) from PGICH. Read More


Academic Activities

  • 19/02/2022: Medical Ethics in Genetic Testing and Care for Rare diseases.
  • 28/02/2022: A discussion on Craniosynostosis and Interesting Case scenarios by Dr. Mayank Nilay (National level Webinar on the occasion of Rare Disease Day)
  • 08/03/2022: CME on Infertility/Abortion/Hygiene & Cancer prevention in Women in collaboration with Department of Pathology (On the eve of Women's Day)
  • 21/03/2022: Public Awareness Lecture on International Down Syndrome Day
  • 23/04/2022: One day symposium (national level) by Medical genetics Department in collaboration with department of Pathology.
  • 23/07/2022: 2nd Scientific symposium By Medical Genetics Department

  • 01/09/2022: National level CME by Medical genetics Department in collaboration with Pediatrics department (Theme: Genetics in Pediatric Practice)

  • 17/09/22-18/09/22: First UP Rare Disease Symposium (Orientation workshop for Pediatricians) in collaboration with the PHO department, AOP (Noida) and the department of Medical Education, U.P. 

  • 21/03/24: Awareness cum scientific symposium on International Down syndrome Day 

  • 30/08/24: Represented Institute along with PHO and Pediatrics Department for 32nd episode of Academy with Institutions program of Indian Academy of Pediatrics

  • 13/11/24: CME on Pediatric Genetic Disorders in collaboration with the Pediatrics Department 

  • 27/02/2026: Department Foundation Day cum scientific symposium as part of rare disease awareness initiative 


Courses and Training offered

Observership in Neurogenetics & Developmental Pediatrics*

Seat: 1 per month; Duration: 1month(2weeks in Medical Genetics+1week in Pediatric Neurology+1week at DEIC(Tower 9)

Minimum qualification required: DCh/MD/DNB in Pediatrics from NMC/MCI recognised College

Registration fee: Rs 1000, certificates will be issued as per Institute's rules and regulations.

*This is the first such observership Programme in India where experience of three important domains of Pediatrics will be provided at the same institute.


Publications

  1. Nilay M, Moirangthem A, Saxena D, Mandal K, Phadke SR. Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening program. Am J Med Genet A. 2021; 185(1):274-277. doi:10.1002/ajmg.a.61918
  2. Nilay M, Phadke SR. Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism. Indian J Pediatr. 2020; 87(12):1070-1072. doi:10.1007/s12098-020-03333-9
  3. Finsterer J, Nilay M, Phadke SR. Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism – Correspondence. Indian J Pediatr. 2021; 88(2):209-210. doi:10.1007/s12098-020-03467-w
  4. Rawool A, Nilay M, et al. A Case Series of Double Segment Imbalances: Delineation of Phenotypes and Comparison with Phenotypes of Isolated Copy Number Variations. Genetic Clinics 2020; Vol 13: Issue 4: 07-15. http://iamg.in/genetic_clinics/adm/articlepdf/october_December_2020_04-genevista.pdf
  5. Nilay M. The Night May Be Dark, but the Morning Will Be Brighter! Genetic Clinics 2020; Vol 13: Issue 4: 23-24. http://iamg.in/genetic_clinics/full_text.php?id=328
  6. Nilay M, Srivastava P, Rai A, Phadke SR. Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype. Indian J Pediatr. 2021; 88(8):813-818. doi:10.1007/s12098-021-03763-z
  7. Moirangthem A, Saxena D, Masih S, Shambhavi A, Nilay M, Phadke SR. Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants. Clin Dysmorphol. 2021 Nov 29. doi: 10.1097/MCD.0000000000000407. Epub ahead of print. PMID: 34845156.
  8. Nilay M, Rawool A, Mandal K. Progressive Pseudorheumatoid Dysplasia of Childhood (PPRD)-A case series with recurrent c.740_741del variant. J Pediatr Genet. 2021 [published online ahead of print, 2021 Oct 25]. https://www.thieme-connect.com/products/ejournals/abstract/10.1055/s-0041-1736611
  9. Nilay M, Saxena D, Mandal K, Moirangthem A, Phadke SR. Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum [published online ahead of print, 2021 Sep 29]. Eur J Med Genet. 2021; 64(12):104345. doi:10.1016/j.ejmg.2021.104345
  10. Nilay M. Crouzon syndrome: A rare case report in perimenopausal women – Correspondence. J Indira Gandhi Inst Med Sci 2021; 7: 152-3. Available at: https://www.jigims.co.in/text.asp?2021/7/2/152/331746.doi:10.4103/jigims.jigims_30_21
  11. Masih S, Moirangthem A, Shambhavi A, Rai A, Mandal K, Saxena D, Nilay M, Agrawal N, Srivastava S, Sait H, Phadke SR. Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing. Eur J Med Genet. 2022 May 11:104520. doi: 10.1016/j.ejmg.2022.104520. Epub ahead of print. PMID: 35568357.
  12. Vishwakarma, P., Nilay M., Dubey, A., Upadhyay, S., Joshi, A., Kalo, D., & Mishra, V. (2022). A novel mutation (c.1966C>T; p. Gln656Ter) in the COL7A1 gene identified in a case of dystrophic epidermolysis bullosa by whole exome sequencing. Polymorphism, 8. Retrieved from https://www.peerpublishers.com/index.php/snp/article/view/94
  13.  Vignesh V, Jain V, Nilay M et al. CARMIL-2 gene mutation a novel cause of pediatric monogenic inflammatory bowel disease: Trop Gastroenterol. 2023;44(2):67-69 (http://www.tropicalgastro.com/articles/44/2/CARMIL-2-Gene-Mutation.html)
  14. Nilay, M; Moirangthem, A. Complex Microphthalmia due to a Homozygous Novel Variant in SIX Homeobox 6 Gene. Delhi Journal of Ophthalmology 33(1):p 45-49, Jan–Mar 2023. | DOI: 10.4103/DLJO.DLJO_17_23
  15. Kumar S, Harisankar AG, Singh N, Kumar SR, Mayank N. Bardet-Biedl Syndrome with Choledochal Cyst: Rare Association with a Novel Variant. J Indian Assoc Pediatr Surg. 2023 Nov-Dec;28(6):520-522. doi: 10.4103/jiaps.jiaps_124_23. Epub 2023 Nov 2. PMID: 38173646; PMCID: PMC10760602
  16. Skeletal Dysplasias in Anomaly Scan.In: Lal P, Garg R, editors.Fetus as Patient.1st ed.:Evangel Publishers. Under publication
  17. Approach to Primary Amenorrhoea. In: Gupta M, Bachani S, editors. National NARCHI periodical (Volume 1 Issue 2, November 2024; https://narchi.org/periodicals/)
  18. Srinivasan, VM; Manisha, R; Nilay, M; et al. Giant axonal neuropathy in a North Indian child with stop gain GAN variant: A case report. Indian Pediatrics Case Reports 5(1): Jan–Mar 2025.
  19. Nilay, M; Manisha, Rani; Singh, Dharmendra Kumar. Understanding and Managing Infantile PHGDH Deficiency: A Case Report. Neurology India 74(1): p 115-118, Jan–Feb 2026. | DOI: 10.4103/neurol-india.Neurol-India-D-24-00827
  20. Ghosh U, Agrawal A, Srinivasan VM, Manisha R, Shukla U, Jain V, Nilay M, Kumar H. Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review. Clin Exp Pediatr. 2025 Nov;68(11):858-867. doi: 10.3345/cep.2025.00906.
  21. Gulati S, Kanth AN, Dalal A…. Nilay M et al. Spinal muscular atrophy in India: Patient journey, access to care, treatment barriers, and strategic recommendations: Insights from experts. Journal of Neuromuscular Diseases. 2025;0(0). doi:10.1177/22143602251386118
  22. Srinivasan VM, Manisha R, Nilay M. Primary coenzyme Q10 deficiency type 7: A potentially treatable cause of developmental delay (May 2026 issue, Neurology India).
  23. Manisha, R., Rikhari, P., Nilay, M., & Srinivasan, V. M. (2026). Fontaine progeroid syndrome into early adolescence: a case report. Clinical Dysmorphology, 35(2), 81–84. https://doi.org/10.1097/MCD.0000000000000553
  24. Chapter 16: Duchenne Muscular dystrophy; Genetics Section, In: 360° Pediatrics: IAP Pediatric Practice Guidelines 2026
  25. Srinivasan, VM.; Nilay, M; Manisha, R. Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features. Clinical Dysmorphology (): 10.1097/MCD.0000000000000562, March 04, 2026. 
  26. Nilay, M; Singh, DK. PhotoQuiz 72. Genetic Clinics 19(2):p 30, Apr–Jun 2026. | DOI: 10.4103/GENC.GENC_7_26. Available at: https://journals.lww.com/gecl/fulltext/2026/04000/photoquiz_72.8.aspx


Research Projects (ongoing)

  1. DNA banking for pediatric genetic disorders.
  2. Genetics of external ear malformations: A case series from a pediatric superspeciality hospital.
  3. Decoding Dysmorphism: A CNV Case Series on the Diagnostic Challenges and Clinical Insights. 
  4. A Cross-Sectional Study to Identify Toddlers Aged 12–18 Months at Risk of Autism Spectrum Disorder Using the Concern-9 Tool at the Immunization Clinic of the Postgraduate Institute of Child Health, Noida.


Future Plans

  • Inhouse Newborn screening
  • Carrier testing for Thalassemia, SMA and Fragile X
  • Inhouse Cytogenetic Microarray
  • Inhouse Multiplex ligation-dependent probe amplification
  • Inhouse Wet Lab for Next Generation Sequencing
  • Specialised Medical Genetics OPD for Cancer Genetics, Down Syndrome Clinics, SMA Clinics, Skeletal Dysplasia/OI Clinics; and Collaborative Clinics with other Paediatric superspecialities.
  • Interdepartmental Research and academic activities
  • Fellowship and DM courses in Medical/Lab Genetics
  • Establish as a Centre of Excellence in the field of Medical Genetics


Departmental Photos.

Disease Awareness Videos

Awareness video on Spinal Muscular Atrophy


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