Molecular Genetics Unit

The Molecular Genetics Unit is primarily engaged in research that aims to study the basis of common genetic diseases. Using relevant technology, its studies seek to gain knowledge that can be translated to the improvement of diagnosis and treatment of diseases that are unique and common to Filipinos. To this end, the Laboratory also offers services that will aid clinicians and health researchers in their studies, as well as patient services for the screening and diagnosis of genetic diseases, particularly disorders screened via the Expanded Newborn Screening Program of the Philippines among others. (since 2001).
Molecular Genetics Laboratory
  • Molecular Genetics Laboratory
  • Alpha Globin Multiplex PCR
  • Alpha Globin StripAssay 
  • HbCS Targeted Sequencing
  • Beta Globin StripAssay
  • HbS Targeted Sequencing
  • HbE Targeted Sequencing
  • HbD Targeted Sequencing
  • HbC Targeted Sequencing
  • HPLC Analysis for Thalassemia Screening
  • XDP Mutational Analysis
  • DNA Extraction
  • Outsourced Testing

Cost of tests and services will be provided upon request.

Sample Submission Guidelines
Please coordinate with the laboratory prior to sending samples and visiting the unit for proper instructions regarding test and services offered. Please direct your inquiries and endorsement to the Molecular Genetics Unit through email at and/or at telephone number 5310 1780 loc 113 or 0999-8879491 from Monday to Friday.
  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 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.


Download  Molecular Genetics Brochure

Contact the Molecular Genetics Laboratory for more information:

The UP-NIH Molecular Genetics Laboratory
Institute of Human Genetics
The National Institutes of Health
2nd floor, 620 Pedro Gil St., Ermita, Manila 1000
Telephone: 5310-1780 local 113