ABOUT US

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 one of the service and research oriented institutes of the National Institutes of Health-University of the Philippines Manila (NIH-UP). Since then, IHG expanded its services to become the largest provider of genetic services in the country - providing diagnostic, research and clinical management services in support of RA 10747 or the Rare Disease Act of the Philippines and the RA 9288 or the Newborn Screening Act of 2004.

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Biochemical Genetics Laboratory

 

Microarray Core Laboratory   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)