Molecular Genetic Testing in Nepal: Prevalence and Resources

Birth defects or congenital anomalies are a major cause of disabilities in developing countries like Nepal. In Nepal, the prevalence of genetic disorders is high due to the high rate of consanguineous marriages, limited healthcare resources, and inadequate genetic counselling services. However, the availability and utilization of molecular genetic testing in Nepal are limited.

Diagnosis, counselling and treatment of genetic diseases is a significant burden on public health systems where health programs prioritize treatment of potentially lethal and acute diseases, such as infections or diseases arising from malnutrition, diarrhoea or typhoid. Molecular genetic testing is an important diagnostic tool that can be used to detect genetic disorders and diseases caused by genetic mutations. However, the availability of molecular genetic testing can be limited in Nepal due to factors such as cost, infrastructure, and access to trained personnel, and cultural and ethical consideration.

Though, COVID-19 PCR laboratory has been established in Nepal with the facilities of molecular diagnosis setting. The focus of a COVID-19 PCR lab is to detect the presence of the SARS-CoV-2 virus in a patient’s sample using PCR testing. This requires specific equipment, reagents, and protocols that are different from those used in other types of genetic testing. Therefore, it is not appropriate to expect a COVID-19 PCR lab to provide services for other types of genetic testing. These tests require different equipment, reagents, and expertise, and may be conducted in a different laboratory setting.

Genetic testing has a variety of uses:

  • Diagnosis of genetic disorders: Genetic testing can be used to diagnose genetic disorders such as cystic fibrosis, sickle cell anaemia, Huntington’s disease, and many others. By analysing a person’s DNA, doctors can determine if a genetic mutation is present that is causing the disorder. For example, women with a family history of breast cancer may undergo genetic testing to see if they carry the BRCA1 or BRCA2 gene mutations that increase the risk of developing breast and ovarian cancer.
  • Screening for genetic predisposition to diseases: Some genetic tests can identify a person’s increased risk for certain diseases, such as breast cancer, Alzheimer’s disease, and colon cancer. This information can be used to guide preventative measures and early detection.
  • Prenatal testing: Genetic testing can be performed during pregnancy to determine if a foetus has certain genetic disorders, such as Down syndrome or cystic fibrosis. This can help parents make informed decisions about their pregnancy and prepare for the child’s future care.
  • Pharmacogenomics: Genetic testing can be used to determine how a patient’s body will metabolize and respond to certain medications. This information can help doctors choose the most effective and safe medication for a patient.
  • Forensic testing: Genetic testing can be used in forensic science to identify suspects and victims in criminal investigations, as well as to identify victims of disasters or mass casualties.
  • Identification of infectious agents: Genetic testing can be used to identify the specific microbe responsible for an infectious disease, such as bacteria, viruses, or fungi. This can help doctors choose the appropriate treatment for the infection.
  • Carrier screening: Carrier screening can identify if a person carries a genetic mutation that could be passed on to their children. This can be useful for couples who are planning to have children and want to know if they are at risk of having a child with a genetic disorder.
  • Preimplantation genetic testing: Preimplantation genetic testing can be performed on embryos created through in vitro fertilization (IVF) before they are implanted in the uterus. This can help identify embryos that carry genetic disorders and increase the chances of a successful pregnancy.

Currently, there are only a few molecular genetic testing facilities in Nepal, and most of them are located in Kathmandu, the capital city. The major resources for molecular genetic testing in Nepal include:


National Public Health Laboratory (NPHL), Kathmandu, Nepal

Testing: Various infectious diseases, including HIV, tuberculosis, and Influenza

Central Police Forensic Science Laboratory, Kathmandu, Nepal

Testing: DNA Profiling, Fingerprint

National Forensic Science laboratory, Lalitpur, Nepal

Testing: Paternity Testing, Forensic investigations.

B.P. Koirala Memorial Cancer Hospital, Bharatpur, Chitwan, Nepal

Testing: Cytogenetics

National Academy of Medical Sciences Bir Hospital, Kathmandu, Nepal

Testing: Hepatitis B Viral Load Testing, Karyotype, Thalassemia

Department of Microbiology, Dhulikhel Hospital, Dhilikhel, Nepal

Testing: Detection of Mycobacterial DNA and HPV DNA

Future plan: HCV and HBV viral load, multiplex PCR for STDs, HLA B-27 and Multiplex PCR in Real time system for gonorrhoeae/C. trachomatis/ M. genitalium/ T. vaginalis; HSV-1/HSV-2/

Central Veterinary Laboratory, Department of Livestock Services, Kathmandu, Nepal

Testing: Multiplex for respiratory disease of small ruminant (PPR, MCCP, Capripox, Pasteurella) and swine diseases (African swine fever virus, Classical swine fever virus, Salmonella and Erysipela)


Decode Genomics and Research Center Pvt. Ltd, Kathamndu, Nepal

Testing: Viral Load Testing, Karyotyping, Genetic Diagnosis, Mutation analysis etc.

Intrepid Nepal Pvt. Ltd, Thapathali, Kathmandu, Nepal

Testing: Viral Load Testing, Molecular diagnosis of Pathogens etc.

Nova International Diagnostics: A sister organisation of Kathmandu center for genomics and Research Laboratory, Lalitpur, Nepal

Testing: Molecular diagnosis of Pathogens, Prenatal Testing, Carrier screening, Preimplantation genetic testing.

Central Diagnostic Laboratory (CDL), Kathmandu, Nepal

Testing: Viral Load Testing, Molecular diagnosis of Pathogens etc.

Despite the presence of these facilities, the accessibility and affordability of molecular genetic testing in Nepal are still limited. The high cost of testing, lack of insurance coverage, and limited awareness among the general public are some of the major barriers to accessing genetic testing services in Nepal. Moreover, the quality and standardization of the testing services need to be improved to ensure accurate and reliable results.

Therefore, the development and implementation of molecular genetic testing in Nepal requires a collaborative effort between governments, international organizations, and local communities. By addressing the challenges, it may be possible to increase the availability and accessibility of molecular genetic testing, which could ultimately improve health outcomes for individuals and populations.

In conclusion, molecular genetic testing in Nepal is still in its nascent stage, and more efforts are needed to increase the availability, accessibility, and affordability of testing services. The government and private organizations should work together to establish more testing facilities, improve the quality of testing services, and provide adequate genetic counselling services to the general public.

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