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 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.

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Biochemical Genetics Laboratory
  • The Biochemical Genetics Laboratory is a specialized laboratory and one of its kind in the Philippines which provides biochemical testing and results interpretation for the diagnosis, study and clinical management of inborn errors of metabolism.
  • This laboratory is a unit of the Institute of Human Genetics, National Institutes of Health, University of the Philippines-Manila.
  • We offer plasma, urine and cerebrospinal fluid (CSF) analytical services required for the diagnosis and monitoring of a wide range of Inborn errors of metabolism (IEM).
  • Analytical services for research purpose may also be provided by the laboratory.

 

  • What are Inborn Errors of Metabolism
    • IEMs are rare genetic (inherited) disorders in which the body cannot properly convert food into energy due to defects in specific proteins or enzymes that help break down parts of food.
    • For 2021, BGL has logged a total of 56 IEM cases among Filipino newborns.
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  • In partnership with other International Laboratories, Biochemical Genetics Laboratory has been sending samples for the following tests:
    • DNA Analysis of 6-Pyruvoyl Tetrahydropterin Synthase Deficient Hyperphenylalaninemia and Urine Pterins (c/o the Department of Newborn Screening Center, The Chinese Foundation of Health (Taipei, Taiwan);
    • DNA Analysis of 6-Pyruvoyl Tetrahydropterin Synthase Deficient Hyperphenylalaninemia and Urine Pterins + DHPR (c/o the Department of Newborn Screening Center, The Chinese Foundation of Health (Taipei, Taiwan);
    • DNA Analysis of 6-Pyruvoyl Tetrahydropterin Synthase Deficient Hyperphenylalaninemia and Urine Pterins with DHPR (BH4 loading) (c/o the Department of Newborn Screening Center, The Chinese Foundation of Health (Taipei, Taiwan);
    • Very long-chain fatty acid test for X-Linked Adrenoleukodystrophy (c/o Kennedy Krieger Institute, Peroxisomal Laboratory (Baltimore, USA))
    • Dried Blood Spot for the screening of Lysosomal Storage Disorders (LSD (specifically, Fabry disease, Pompe disease, Gaucher disease, Niemann-Pick type A/B disease, MPS I, and MPS II)) (c/o National Taiwan University Hospital (NTUH), Taiwan)

Publications

  • Esphie Grace  D. Fodra, Judy S. Manliguis, Cristine  P. Lopez, Mary Anne D. Chiong (2016) Biochemical Findings in the first Filipino Child confirmed to have Nonketotic hyperglycinemia. Acta Medica Philippina. 50 (2); 99-103.
  • Esphie Grace F. Fojas, Judy S. Manliguis, Cristine P. Lopez, Sheryl V. Decena, Kathleen Gayl D. Fonacier and Mary Anne D. Chiong (2017). A Review of the Results of the Very Long Chain Fatty Acid Analyses for  X-linked Adrenoleukodystrophy at the Biochemical Genetics Laboratory of the Institute of Human Genetics-National Institutes of Health, Manila. Acta Medica Philippina. 51 (3); 223-227.
  • Cristine P. Lopez, Sheryl V. Decena, Kathleen Gayl D. Fonacier and Mary Anne D. Chiong. (2017) L-2-Hydroxyglutaric Aciduria – a Rare Type of Organic Aciduria Presenting as Seizures and Developmental Delay in a Filipino Child. Acta Medica Philippina. Genetics, 51(3); 259-262.
  • Poster Presentations during the 35th Philippine Chemistry Congress
    • Sheryl V. Decena, Cristine P. Lopez, Mary Anne D. Chiong and Dahlia C. Apodaca. Plasma Acyl Carnitine Profile of Filipino Patients diagnosed with Fatty Acid Oxidation as determined using ESI Tandem LC-MS/MS: A Retrospective Study. Book of Abstracts, 2021, p. 83.
    • Vivien Ann A. Juarez, Sheryl V. Decena, Cristine P. Lopez, and Dahlia C. Apodaca.  The Impact Of Covid-19 Pandemic On The Conduct Of Confirmatory Biochemical Testing For The Diagnosis Of Inborn Errors Of Metabolism: A Philippine Perspective.  Book of Abstracts, 2021, p. 87.
  • List of programs/projects/studies we are supporting through the performance of analytical tests.
    • RA 9288 or the Newborn Screening Act of 2004
    • Newborn Screening Reference Center (NSRC)-funded projects
      • Plasma carnitine levels of Filipino Patients with maple syrup urine disease and classical phenylketonuria on protein-restricted diets and their correlation with a marker of lipid peroxidation infants
      • Screening for maternal carnitine transport defect and 3-methylcrotonyl-CoA carboxylase deficiency following a positive screen in their newborn infants.

 

MEET THE BGL STAFF

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BGL FACILITIES/EQUIPMENT

 

Organization Mission

  • FAQS
    • Sample Collection
    • How much does each test cost?
    • How to schedule for appointment for blood extraction?
    • Can I change my appointment date or time?
      • This is subject to the availability of slot.
    • What happens if you miss your appointment?
      • You must contact us again for a new appointment.
    • What should you bring?
      • Please bring the necessary documents such as Physician’s referral, clinical abstract, and/or PWD ID/ Certificate of Indigency by DSWD (if applicable).
    • What about the Clinical Room (sample collection venue?)
      • The Clinical Room is located at Room 106 at the ground floor of the NIH Building.
    • What will we do with your information?
      • All information is protected by the Data Privacy Act of 2012.
    • How will I get my results?
      • Hardcopy of results must be claimed at NIH. Please present a copy of the official receipt upon claiming. Hardcopy of results may also be mailed via courier with a mailing fee of Php 150.00.
    • When will I find out my results?
      • Please refer to the information pages of our tests for the turn around time of results.
    • Do we accept Philhealth or HMOs?
      • Unfortunately, we do not accept those as of the moment.
    • Specimens are received from Newborn Screening Centers (NSCs), several hospitals, and others.  An endorsement from the NSCs is required prior to sample collection and/or acceptance of sample for analysis.  For other patients not covered by the ENBS program, a referral from a general practitioner or specialist doctor is required.
    • HOW TO CONTACT BGL?
    • BGL BROCHURE
  • We value your input and feedback!
  • As part of our quality management system, and in order to assess the needs and requirements of our customer, we welcome any feedback on our service.
  • If you have any questions about the services available and how these can be availed by you or your family, please contact any of our staff Monday to Friday, 8am to 5pm. They should also have information about the test fees and sample collection and submission.

Results Inquiries/Laboratory-related Advice
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DAHLIA C. APODACA, PhD, RCh
Head, Biochemical Genetics Laboratory
dcapodaca@up.edu.ph

 
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Grace Ann G. Samson, RCh
Team Captain (University Researcher II)
ggsamson1@up.edu.ph

 

 BGL 

  

brochure

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
Email: biochemicalgenetics-ihg.upm@up.edu.ph

 

© 2022.Institute of Human Genetics. All Rights Reserved.

National Institutes of Health - University of the Philippines - Manila