Molecular Genetics Unit

The Molecular Genetics Unit is primarily engaged in research that aims to study the basis of common genetic diseases. Using relevant technologies, our studies seek to gain knowledge that can be translated to improve diagnosis and treatment of diseases unique and common to Filipinos.
Our unit also offers services that aid health researchers in their studies as well as clinicians in screening and diagnosis of particularly rare diseases.
Molecular Genetics Laboratory
Alpha and Beta Thalassemia
1. Alpha Globin Multiplex PCR-based mutation detection. Detects the 4 alpha-globin gene mutations common in the Filipino population
Turnaround time: 4 weeks
2. Alpha Globin StripAssay
Detects 21 common alpha globin mutations
Turnaround time: 4 weeks
3. Beta Globin StripAssay
Detects 22 common South East Asian (SEA) beta globin mutations
Turnaround time: 4 weeks
4. Hemoglobin Constant Spring (HbCS) detection via Targeted Sanger Sequencing
Detects Hb Constant Spring
Turnaround time: 4 weeks
5. Hemoglobin E (HbE) detection via Targeted Sanger Sequencing
Detects HbE mutation
Turnaround time: 4 weeks
6. Hemoglobin S (HbS) detection via Targeted Sanger Sequencing
Detects HbS mutation
Turnaround time: 4 weeks
7. Thalassemia Screening via the High Performance Liquid Chromatography (HPLC)
Detects hemoglobin variants via quantification of levels of hemoglobins such as HbA, HbA2, HbF and other hemoglobin variants such HbE
Turnaround time: 6 weeks
X-linked Dystonia Parkinsonism (XDP)
Detects the SVA (SINE/VNTR/Alu) retrotransposon insertion in intron 32 of TAF1 (TATA binding protein associated factor 1) in the XDP critical region in Xq13.1
Turnaround time: 4 weeks
Referrals for Molecular Diagnostic Testing
Facilitates the outsourcing of tests to accredited international diagnostic laboratories
Turnaround time: varies
Other services offered
     1.DNA extraction
     2. Nanodrop UV-Vis Spectrophotometer Rental
     3. Refrigerated Centrifuge Rental
     4. PCR Cabinet Rental
     5. PCR Machine Rental
  • 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.
The Molecular Genetics Unit has on-going researches focusing on the following inherited diseases:
     1. Alpha Thalassemia
     2. Beta Thalassemia
     3. Osteogenesis Imperfecta
     4. Cystic Fibrosis

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