The Children’s Hospital & the University of Child Health Sciences, Lahore

Department of Pediatric Medical Genetics
  • geniDr Muhammad Yaqoob
  • MBBS, MCPS (Pediatrics)
  • MSc (Clinical Genetics-Sweden)
  • PhD (Clinical Genetics-Sweden)
  • Assist. Professor
  • Head of the Medical Genetic Department

Brief History & Introduction

The first ever Department of Medical Genetics in public sector was established in 2001 at Children’s Hospital, Lahore. It was first of its kind in Pakistan. Dr Saqib Mehmood was the first consultant and head of the department. Diagnostic chromosomal analysis for various genetic diseases was started. For clinical genetic evaluation, diagnosis and counseling, a genetic clinic in out patient department was also established.

During the course of time the Department of Medical Genetics established research collaboration with other universities like Quid-e-Azam University, Islamabad, Punjab University, Lahore. These research collaborations resulted completing research work for 4 MSc and one PhD thesis. Dr Saqib Mehmood was transferred to the University of Health Sciences in 2007 and Dr Saima Mansoor Bugvi took the temporary charge of the department and continued the work in the cytogenetic laboratory.

The current head of the department, Dr Muhammad Yaqoob, was appointed as Consultant Geneticist in June 2010. He is basically a clinical geneticist and has especial interest in dysmorphology, mental retardation and population genetics in the prevention of genetic diseases especially beta-thalassaemia.

As the Department of Medical Genetics is the only department of its kind in this country providing hospital based genetic health service in the public sector, requisitions are received from not only the province of Punjab but also the whole country. This department is equipped with latest technology for cell culture and karyotyping. It also provides clinical diagnosis of genetic diseases and genetic counseling.

Service available

  1. Clinical diagnosis of genetic diseases and dysmorphology
  2. To provide genetic counseling
  3. Cell culture and chromosomal laboratory studies

Work load

There is tremendous work load on the department particularly laboratory diagnosis. The number of patients referred to genetic laboratory for chromosomal analysis is increasing day by day. A graphical presentation of this work load is shown in the following diagrams.



Under graduate and postgraduate education and training

Department of medical genetics is affiliated with the School of Allied Health Sciences, Children’s Hospital, Lahore. It is involved in teaching undergraduate students of Medical Laboratory Technology (MLT), Physiotherapy, Medical Imaging Technology, Occupational therapy, Speech and language pathology, Dental Technology, Operation theater Technology. A full time training program for BSc Honors in laboratory technology in cytogenetics is available. Part time training program for MSc cytogenetics for students of other institutions is also in progress.

Research activities

Different research projects in the field of medical genetics are running in the department.

Following two research projects were completed in 2011

  1. Etiology and Genetic Factors in Oro-Facial Clefts Reported at Children’s Hospital, Lahore.
  2. Molecular diagnosis in congenital adrenal hypoplasia secondary to 21-hydroxylase deficiency.

Following two research projects are in progress for students of MLT

  1. Genetic sex assignment to children with ambiguous genitalia
  2. Chromosomal aberrations in children with Turner syndrome phenotype.
  3. ITD mutation of FLT3 gene in patients with Acute Myeloid Leukemia
  4. Frequency of deletions in axons 51-53 in DMD cases.

Faculty List

    1. Dr Muhammad Yaqoob (MBBS,MCPS,MSc,PhD)

Clinical Geneticist

    1. Dr Saima Monsoor Bugvi (MBBS,M.Phil)


    1. Dr Zeenat Usman (MBBS)
    2. Hafiz Mumtaz Ahmed

Lab technician

Research fellows and trainee students

  1. Miss Maryam Zafar, MLT student in molecular genetics & cytogenetics
  2. Miss Osheen Sajjad, MLT student in molecular genetics & cytogenetics
  3. Miss Amama Adyan, MLT students in molecular genetics & cytogenetics
  4. Miss Shomaila Habib, MLT students in molecular genetics & cytogenetics

45Faculty members and trainee students at the department of Medical Genetics, CH&ICH, Lahore.

Chairs: Left to right, Dr Saima Mansoor Bugvi, Dr Muhammad Yaqoob, Hafiz Mumtaz Ahmed

Standing: Left to right, Osheen Sajjad, Shomaila Habib, Maryam Zafar, Amama Adyan

Future vision

The Department is planning to increase the existing facility of cytogenetics. The Department has several future plans to add new diagnostic genetic techniques both in the field of cytogenetics as well as molecular genetics, like,

  1. Chromosome breakage studies
  2. FISH technology
  3. Cancer cytogenetics
  4. Chromosomal analysis of amniotic fluid cells and chorionic villus cells
  5. Chromosome microarray analysis
  6. Mutation analysis of beta-thalassemia and other genetic diseases.