Biochemical Genetics Laboratory

Biochemical Genetics

The Biochemical Genetics Laboratory is a specialized laboratory which provides biochemical testing and results interpretation for the diagnosis, study and clinical management of inborn errors of metabolism. The Biochemical Genetics Laboratory conducts both qualitative and quantitative analysis of biomarkers for inborn errors of metabolism based on specialized chromatographic methods such as tandem mass spectrometry (FIA-MS/MS), gas chromatography-mass spectrometry (GC-MS) and ultra high performance liquid chromatography (UPLC) (since 2001).

The locally-available tests are as follows:

•   Urine Metabolic Screening
•   Urine Organic Acid Analysis    
•   Comprehensive Urine Metabolic Profile
•   Plasma Quantitative Amino Acid Analysis
•   Paired CSF/Plasma Quantitative Amino Acid Analysis 
•   Plasma Homocystine Quantitation 
•   Plasma Acylcarnitines Quantitation
•   Carnitines-Organic Acids Panel
The overseas tests currently available are as follows:
•   Tetrahydrobioptern (BH4) Deficient Hyperphenylalaninemia
•   Lysosomal Enzyme Assay
•   Peroxisimal Lipid Panel
•   Very Long Chain Fatty Acid Quantitation
•   Lysosomal Storage Disease Enzyme Assays (Temporarily not available)
Contact Biochemical Genetics Laboratory for more information:
Biochemical Genetics Laboratory
Rm. 204, Institute of Human Genetics,
National Institutes of Health
University of the Philippines, Manila
Tel Nos: (632) 5310-1780 loc. 103 / (632) 85261725
Mobile number:  +63 928-5060964