The Institute of Human Genetics (IHG) began in 1990 as the Medical Genetics Unit of the University of the Philippines College of Medicine which in 1999 became as one of the service and research oriented institutes of the National Institutes of Health-University of the Philippines Manila (NIH-UP). Since then all services of the Medical Genetics Unit were transferred to the Institute and is now the largest provider of genetic services in the country.


Molecular Research and Diagnostic Unit (MRDU)


Microarray Core Laboratory  

The Molecular Genetics Unit is the service arm of the MRDU. It offers services for the diagnosis of genetic disorders including conditions in the Expanded Newborn Screening Program of the Philippines. The unit provides a confirmatory testing service for newborns screened with Thalassemias, Hemoglobin Variants, and FAOD and functions as the sole laboratory in the country that provides genetic analysis for patients with XDP.    







*Cost of tests and services will be provided upon request.


  • Alpha Thalassemia Multiplex PCR
  • Alpha Globin StripAssay Analysis
  • Beta Globin StripAssay Analysis
  • Cystic Fibrosis Stripassay
  • DNA Extraction (MINI)
  • DNA Extraction (MIDI)
  • HBA1 and HBA2 Targeted Sequencing
    • HbCS Targeted Sequencing
  • HBA 1 and HBA2 Sequencing
  • HBB Sequencing
  • HBB Targeted Sequencing 
    • HbS Targeted Sequencing
    • HbE Targeted Sequencing
    • HbD Targeted Sequencing
    • HbC Targeted Sequencing
  • HPLC Analysis for Thalassemia Screening
  • XDP Genetic Analysis
  • Outsourced Testing




  1. Alpha Thalassemia Study: Prevalence of Alpha Thalassemia Mutations in Filipino Patients

  2. Beta Thalassemia Study: Prevalence of the most common β-Globin Gene Mutations in Filipino β-Thalassemia Patients

  3. Alpha Thalassemia Carrier Study: Carrier Screening of Novel Alpha Globin Gene Variant, c.358 C>G, in Parents of Filipino Alpha-Thalassemia Probands

  4. Cystic Fibrosis Study: Clinical Characterization and Identification of CFTR Gene Mutations in Newborns with Positive Screen for Cystic Fibrosis in the Expanded Newborn Screening Program

  5. MCADD/VLCADD Study: Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) and Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

  6. Congenital Adrenal Hyperplasia Study: Operations Research in the Development of 2nd Tier Testing to confirm Congenital Adrenal Hyperplasia among Mortalities in Screen Positive Newborns using Molecular Genetic Analysis

  7. Osteogenesis Imperfecta: Molecular Characterization of the COL1A2 Gene in Filipinos Diagnosed with Osteogenesis Imperfecta

  8. TP53 Germline Variant and Choledochal Cyst: Association of TP53 Germline Variant and Choledochal Cyst Among Clinically Diagnosed Filipino Pediatric Patients

Most notably, studies conducted by our researchers on Thalassemias and Hemoglobinopathies have merited the unit's full responsibility in performing confirmatory testing for newborns screened for Thalassemia via the Expanded Newborn Screening Program. The unit is also the sole laboratory in the country that offers XDP genetic analysis. Both of these tests are products of the researches implemented - a testament to the success of the researches done in the unit.


Microarray Core Laboratory  

The Microarray Core Unit is the research arm of the MRDU. It continues to host two of the country’s microarray facilities and conducts research services on pharmacogenetics, the genetic basis of relevant diseases among Filipino, drug discovery, and development of molecular testing procedures using high-throughput genetic association and gene expression profiling. As such, the laboratory is involved in translational research that may help aid clinicians in their care for patients. In addition, the laboratory also offers molecular research services to interested research proponents and investigators.



What is Microarray? Variations in DNA can result in various conditions or phenotypes. Single nucleotide polymorphisms (or SNPs) are sequences that occur when a nucleotide in the DNA differs between paired chromosomes or biological species.

Microarray is a technique used to detect multiple target sequences in an organism’s genome. It can genotype multiple regions in the DNA (deoxyribonucleic acid), can be used to measure expression levels of large number of genes using RNA (ribonucleic acid) simultaneously,  and it can also detect changes in DNA methylation.
These applications can be used to: look for biomarkers associated with certain conditions; seek molecular targets for manipulation; and explain molecular processes related to a trait.
Microarray Core Laboratory


Currently, the Microarray Core Unit has on-going programs and projects on the following diseases:

Microarray Core Laboratory


  • Cardiovascular Diseases: 
    • Coronary Artery Diseases
    • Hypertension
    • Dyslipidemia
    • Acute Myocardial Disease
  • Type 2 Diabetes Mellitus
  • Leptospirosis
  • Sepsis
  • Systemic Lupus Erythematosus
  • Asthma
  • COVID-19
Illumina HiScan Machine


The HiScan™ Reader functions as a high-speed, precision imaging scanner for Illumina sequencing and microarray-based analyses. It is a high-resolution optical imaging instrument that uses red and green lasers to detect fluorescence information on BeadChips.  

Services offered to research proponents and investigators include:
  • DNA Extraction
  • PBMC Isolation 
  • RNA Extraction 
  • RNA Purification   
  • Microarray Custom Genotyping 
  • Microarray Whole Genome Genotyping
  • Microarray Whole Genome Gene Expression
  • DNA Methylation Assay
  • DNA Biobanking
  • qPCR
  • Serum Separation
  • miRNA cDNA
  • miRNA extraction
  • miRNA PCR Array



Genetic susceptibility to Cardiovascular Diseases Genetics of Diabetes Mellitus Pharmacogenetic studies on commonly-used cardiovascular drugs



Title: Evaluation of plasma therapy for retarding progression and preventing complications in COVID-19
Investigators: Jose Nevado, Jr., Sullian Naval, Salvador Caoili, Monica Fresthel Climacosa, Ruby Ann King, Pedrito Tagayuna
Study period: December 1, 2021 - May 31, 2022
Funder: Philippine Council for Health Research and Development

 Title: Joint Project For Disease Modelling and Developing Novel Therapeutics: Initial Focus on Acute Myocardial Infarction and Blood Calibration
Investigators: Ahmad Reza Mazahery, Jose B. Nevado Jr., Maria Amelita Estacio, Allan Hilario, Michael Velarde, Elena Catap, Joana Marie Cruz, Aimee Yvonne Criselle Aman, Alexandra Ang
Study period: July 1, 2021 - June 30, 2023
Funder: CHED - Philippine-California Advanced Research Institutes (PCARI)


  1. Nevado Jr, J. B., & Imasa, M. S. B. (2008). Association of Homocysteine Levels to Traditional Risk Factors in Unstable Angina and Non-ST Elevation Myocardial Infarction: Implications from the FINEST study. Acta Medica Philippina, 42(1).
  2. Nevado Jr, J. B., & Imasa, M. S. B. (2008). Homocysteine predicts adverse clinical outcomes in unstable angina and non-ST elevation myocardial infarction: implications from the folate intervention in non-ST elevation myocardial infarction and unstable angina study. Coronary Artery Disease, 19(3), 153-161.

  3. Imasa, M. S. B., Gomez, N. T., & Nevado Jr, J. B. (2009). Folic acid-based intervention in non-ST elevation acute coronary syndromes. Asian Cardiovascular and Thoracic Annals, 17(1), 13-21.

  4. Cooley, B. C., Nevado, J., Mellad, J., Yang, D., Hilaire, C. S., Negro, A., ... & Boehm, M. (2014). TGF-β signaling mediates endothelial-to-mesenchymal transition (EndMT) during vein graft remodeling. Science Translational Medicine, 6(227), 227ra34-227ra34.

  5. Cutiongco-de la Paz, E. M., Ngelangel, C. A., David-Wang, A., Nevado Jr, J. B., Silao, C. L. T., Hernandez-Sebastian, R., ... & Padilla, C. D. (2017). The Prevalence of CYP2D6 Gene Polymorphisms among Filipinos and their use as Biomarkers for Lung Cancer Risk. Acta Medica Philippina, 51(3).

  6. Albao, D. S., Cutiongco-de la Paz, E. M., Mercado, M. E., Lirio, A., Mariano, M., Kim, S., ... & Seielstad, M. (2019). Methylation changes in the peripheral blood of Filipinos with type 2 diabetes suggest spurious transcription initiation at TXNIP. Human Molecular Genetics, 28(24), 4208-4218. 

  7. Reganit PFM, Nevado Jr. JB, Cutiongco-de la Paz EMC, Taquiso JL, Aman AYCL,…, and Sy RG. (2020). BAG6 Variant rs805303 is Nominally Associated with ACEi-induced Cough Among Filipinos. Philippine Journal of Science, Vol. 149 (1): pp. 35-41. 

  8. Sy RG, Nevado Jr. JB, Llanes EJB, Magno JDA, Ona DID, Aman AYCL,…, and Cutiongco-de la Paz EMC. (2020). The KLOTHO Variant rs36217263 Is Associated With Poor Response to Cardioselective Beta-Blocker Therapy Among Filipinos. Clinical Pharmacology and Therapeutics, Vol. 107(1): pp. 221-226.

  9. Poblete, J. M. S., Ballinger, M. N., Bao, S., Alghothani, M., Nevado Jr, J. B., Eubank, T. D., ... & Magalang, U. J. (2020). Macrophage HIF-1α mediates obesity-related adipose tissue dysfunction via interleukin-1 receptor-associated kinase M. American Journal of Physiology-Endocrinology and Metabolism, 318(5), E689-E700.

  10. Hilario, A. L., Medina, J. R. C., & Nevado Jr, J. B. (2020). Bioinformatic Analysis of Frequently Reported Somatically Mutated Genes of Triple-negative Breast Cancer and Comparison with Top Mutated Genes from the BRCA-UK Project. Philippine Journal of Science, 149(4), 1243-1252.

  11. Runcharoen, C., Fukunaga, K., Sensorn, I., Iemwimangsa, N., Klumsathian, S., Tong, H., ... & Chantratita, W. (2021). Prevalence of pharmacogenomic variants in 100 pharmacogenes among Southeast Asian populations under the collaboration of the Southeast Asian Pharmacogenomics Research Network (SEAPharm). Human Genome Variation, 8(1), 1-6.

  12. Ona DD, Nevado JB, Cutiongco-de la Paz EC, Ramos JD, Aman AYCL, …, and Sy RG. (2021). Variant rs6596140 of Follistatin-like 4 Gene (FSTL4) May Be Associated with Poor Response to Angiotensin Receptor Blockers (ARBs) among Filipinos. Philippine Journal of Science, Vol. 150 (4): pp. 703-21.

  13. Aman AYCL, Sy RG, Nevado JB, Bejarin AP, Reganit PM,…, and Cutiongco-de la Paz EC. (2021). rs17465637 variant of MIA3 may be associated with coronary artery disease among Filipinos. Philippine Journal of Science, Vol. 150 (5): pp. 1051-62.

  14. Punzalan FE, Cutiongco-de la Paz EC, Nevado JB, Magno JD, Aman AYC,...,and Sy RG. (2022). The rs1458038 variant near FGF5 is associated with poor response to calcium channel blockers among Filipinos. Medicine, 101(5), 1-7.

  15. Tee ML, Tee CA, Nevado JB, Santiago AT, Abrilla AA,..., and Cutiongco-de la Paz EC. (2022). Single nucleotide polymorphism (SNP) in genes of lupus: A Philippine study (SIGLA-PH). Journal of Rheumatology and Autoimmunity, 2(1), 22-29. 

  16. Santos LG, Nevado JB, Cutiongco-de la Paz EC, Abrahan LL, Aman AYCL,…, and Sy RG. (2022). Variants Near CETP, MTTP and BUD13-ZPR1-APOA5 may be Nominally Associated with Poor Statin Response Among Filipinos. Acta Medica Philippina, 56(10), 23-31.

  17. Sy RG, Nevado JB, Gonzales EM, Bejarin AP, Aman AYCL,…, and Cutiongco- de la Paz EC. (2022). A Genetic Polymorphism in GCKR may be Associated with Low High-Density Lipoprotein Cholesterol Phenotype among Filipinos: A Case-Control Study. Acta Medica Philippina, 56(10), 49-56.

  18. Paz-Pacheco E, Nevado JB, Cutiongco-de la Paz EC, Jasul Jr. GV, Aman AYC,...,and Ferrer JPY. (2022). Variants of SLC2A10 may be linked to poor response to metformin. Journal of Endocrine Society. Online first: DOI: https://doi.org/10.1210/jendso/bvac092









For more information contact us at:

Molecular Research and Diagnostic Unit

Institute of Human Genetics
The National Institutes of Health
2nd floor, 620 Pedro Gil St., Ermita, Manila 1000
Telephone: 5310-1780 local 113
Email: mrdu_service.upm@up.edu.ph