Institute of Human Genetics

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.

 

Today, the IHG houses a clinical genetics unit and four laboratories – Newborn Screening, Cytogenetics, Molecular and Cancer Genetics and Biochemical Genetics; providing both diagnostic and research services with a staff of over 70 consisting of geneticists, physicians, nurses, medical technologists, biochemists, chemists, biologists and administrative support staff.

Goals

• To provide services that allow definitive diagnosis and early detection of potentially treatable genetic conditions

• To promote health by understanding the genetic basis of common diseases in the Filipino population through basic and clinical research

• To propagate awareness about common genetic conditions through educational programs among physicians and the general public

• and To provide technical information for policy recommendation to help advance the national health agenda

 

Vision

The Institute of Human Genetics of the UP National Institutes of Health will be the premiere provider of comprehensive genetic research, training and services accessible to all Filipinos by 2028.

 

Mission

Advance the national health research agenda through genetic services, research, advocacy and policy recommendation

 

LABORATORY UNITS

• BIOCHEMICAL GENETICS LABORATORY

• CYTOGENETICS LABORATORY

• HEMOGLOBINOPATHY REFERENCE UNIT

• MOLECULAR RESEARCH AND DIAGNOSTIC UNIT - SERVICE ARM

• MOLECULAR RESEARCH AND DIAGNOSTIC UNIT - RESEARCH ARM

• NEWBORN SCREENING CENTER-NIH

 

NON-LABORATORY UNITS

• CLINICAL GENETICS AND RESEARCH UNIT

• GENERAL SERVICES ADMINISTRATIVE UNIT

 

SERVICES OFFERED AND CONTACT INFORMATION PER UNIT

 

BIOCHEMICAL GENETICS 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 (LC-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

•   Qualitative Urine Organic Acid Analysis    

•   Comprehensive Urine Metabolic Profile

•   Plasma Quantitative Amino Acid Analysis

•   Paired CSF/Plasma Quantitative Amino Acid Analysis 

•   Plasma Acylcarnitines Quantitation

 

The overseas tests currently available in partnership with International Laboratories are follows:

•   Tetrahydrobiopterin (BH4) Deficient Hyperphenylalaninemia by the Department of Newborn Screening Center, The Chinese Foundation of Health, Taipei, Taiwan 

•   Lysosomal Enzyme Assay by the National Referral Laboratory for Lysosomal, Peroxisomal and Related Genetic Disorders, Women’s and Children’s Hospital, Adelaide, 

•   Peroxisomal Lipid Panel

•   Transferrin Isoforms

•   Very Long Chain Fatty Acid Quantitation by the to Kennedy Krieger Institute, Peroxisomal Laboratory, Baltimore, USA 

•   Lysosomal Storage Disease Enzyme Assays

 

CONTACT 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:  +63928-5060964

Email: biochemicalgenetics-ihg@upm.edu.ph

 

 

CYTOGENETICS LABORATORY

The IHG Cytogenetics Laboratory is recognized as one of the country’s leading providers of cytogenetic tests and analyses. Our lab is one of only a few in the Philippines that offers comprehensive cytogenetic services. It is a research and diagnostic laboratory specializing in the analysis of human chromosomes using a variety of techniques.

Cytogenetics is the branch of genetics concerned with the study of chromosomes. Chromosome studies are done on dividing nucleated cells and are analyzed microscopically to identify numerical and structural abnormalities. It is still the method of choice for many types of indications for genetic testing, such as cancer diagnosis and prognosis, history of spontaneous abortions, newborn dysmorphology, prenatal diagnosis, and endocrinology disorders.

The laboratory is also known for its expertise in the use of fluorescence in-situ hybridization (FISH) for the detection of chromosomal abnormalities. FISH involves the use of DNA probes that are labeled with fluorescent dyes which are then hybridized to the target sequence within the chromosome. The fluorescence is then detected using a microscope which allows for the detection of even small amounts of genetic material such as in focal chromosome rearrangements or microdeletions. FISH analysis can be used as a diagnostic tool for a variety of indications such as cancer diagnosis, sex chromosome disorders, detection of aneuploidies, and detection of microdeletion syndromes.

If a patient is suspected to have a chromosomal abnormality, the Cytogenetics Unit offers the following services:

1.    Constitutional Diagnostic Services

    a.    Peripheral Blood - Routine and High-Resolution Analysis

    b.    Newborn Blood Chromosome Analysis

    c.    Family Studies

    d.    Mosaicism Analysis

    e.    Solid Tissues - Products of Conception, Skin Biopsies

    f.     Fragile X Screening

    g.    C-banding (Special stain for Chromosomes)

    h.    AgNOR (Special stain for Chromosomes)

 

2.    Neoplastic Diagnostic Services

    a.    Bone Marrow Aspirate/Leukemic Blood

    b.    Solid Tumors/Lymph Nodes

 

3.    Fluorescence in situ hybridization (FISH)

    a.    Microdeletion probes for:

            -    DiGeorge/Velo-Cardio-Facial syndrome

            -    Prader-Willi/Angelman syndrome

            -    Williams-Beuren syndrome

    b.    Translocation probes for BCR/ABL

 

CONTACT INFORMATION:

telephone numbers: (02) 5310-1780 / 5310-0788 local 107, Hotline: 0928-5060963

Email: cytogenetics-ihg@upm.edu.ph

 

Mailing Address

    Cytogenetics Laboratory

    Institute of Human Genetics

    National Institutes of Health Building

    University of the Philippines Manila

    Pedro Gil Street, Ermita, Manila 1000

 

HEMOGLOBINOPATHY REFERENCE UNIT

Hemoglobinopathies are inherited disorders of the hemoglobin chain which may result in anemia. There are 2 types: structural hemoglobinopathies and thalassemias.

Hemoglobinopathies are a result of an amino acid substitution which results in a defective hemoglobin. In the Philippines, the most common structural type is the Hemoglobin E Disease which is clinically benign but when co-inherited with some forms of thalassemia, can produce severe anemia and other morbidities as consequence of iron overloading.  Thalassemia on the other hand is a decrease in the production of globin chains which may lead to varying degrees of anemia. Alpha and beta thalassemias are seen in our country.  A baby may inherit both diseases if one of the parents has thalassemia and the other with hemoglobinopathy.

 

CONTACT INFORMATION:

HEMOGLOBINOPATHY REFERENCE UNIT

Rm 106, Clinical Room, Institute of Human Genetics 

National Institutes of Health, UP-Manila

Pedro Gil St., Ermita, Manila 

Tel. No. 02-8526-1725

Mobile No: (0995) 506 5988

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

 

MEDICAL RESEARCH AND DIAGNOSTIC UNIT - SERVICE ARM 

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.

 

TESTS AND SERVICES OFFERED

Molecular Genetics Laboratory

 

Alpha and Beta Thalassemia, and other Hemoglobin Variants

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 mutation

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. Hemoglobin D (HbD) detection via Targeted Sanger Sequencing

Detects HbD mutation

Turnaround time: 4 weeks

 

8. Hemoglobin C (HbC) detection via Targeted Sanger Sequencing

Detects HbC mutation

Turnaround time: 4 weeks

 

9. 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

 

CONTACT 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

Email: mrdu_service.upm@up.edu.ph

 

MEDICAL RESEARCH AND DIAGNOSTIC LABORATORY-RESEARCH ARM 

The Microarray Core Laboratory hosts two of the country’s microarray facilities and conducts research services on the ethnic population studies, pharmacogenetics, and the genetic basis of commonly prevalent diseases among Filipinos using high-throughput screening and expression profiling of candidate genes. Completed research involved the identification of some of the variants associated with the following diseases among Filipinos: hypertension, coronary artery disease and myocardial infarction, dyslipidemia, diabetes mellitus, systemic lupus erythematosus, asthma, leptospirosis and sepsis. The laboratory is also actively involved in the translation of the results of these researches into diagnostic or prognostication kits which may help aid clinicians in their care for patients with these diseases.

Services offered to research proponents and investigators include:

1. DNA Extraction

2. PBMC Isolation

3. RNA Extraction

4. RNA Purification

5. Microarray Custom Genotyping

6. Microarray Whole Genome Genotyping

7. Microarray Whole Genome Gene Expression

8. DNA Methylation Assay

9. DNA Biobanking

10. qPCR

11. Serum Separation

12. miRNA Array

13. miRNA cDNA

14. miRNA extraction

15. miRNA PCR Array

16. ELISA

 

CONTACT INFORMATION:

 

The Medical Research and Diagnostic Unit- Research Arm

Institute of Human Genetics

The National Institutes of Health

2nd floor, 620 Pedro Gil St., Ermita, Manila 1000

Telephone: 5310-1780 local 116

mrdu_research.upm@up.edu.ph

 

NEWBORN SCREENING CENTER - NIH

The Newborn Screening Center – NIH, being the first Department of Health (DOH) accredited Newborn Screening Center in the country, screens for 29+ metabolic and other congenital disorders to prevent mental retardation and death. The center not only functions as a screening laboratory but also has a Follow Up Section responsible for short term recall and follow up of positive screened cases until confirmation and management of the disorders. Soon as confirmed, the center endorses the cases to the Continuity Clinics for long term follow up care. Currently, NSC-NIH receives samples from all birthing facilities in the National Capital Region (NCR), Region IV-B (MIMAROPA) and Region V (BICOL). Beginning January 2019, ENBS is included in the Newborn Care Package of PhilHealth.

Screenshot taken from PhilHealth Circular 2018-0021: Enhancement of Philhealth Newborn Care Package. Read more about the circular here.Non-PhilHealth members may avail of ENBS at Php1,750.00.

Expanded Newborn Screening allows the detection of more genetic disorders which includes the following:

• Glucose-6 Phosphate Dehydrogenase Deficiency

• Congenital Hypothyroidism

• Congenital Adrenal Hyperplasia

• Galactosemia

• Phenylketonuria

• Maple Syrup Urine Disease

• Cystic Fibrosis

• Biotinidase Deficiency

• Organic Acid Disorders

• Fatty Acid Oxidation Disorders

• Amino Acid Disorders

• Urea Cycle Disorders

• Hemoglobin Disorders

 

CONTACT INFORMATION:

Newborn Screening Center—National Institutes of Health

Rm 102, Building H, UP Ayala Land TechnoHub Complex

Commonwealth Avenue, Diliman, Quezon City, 1101 Philippines

Tel Nos. (632) 83760962, 83760964, 83760965, 83760967

Fax No. (632) 89216395

Email: nsc-nih-list@up.edu.ph

Facebook: Newborn Screening Center—NIH

Twitter: @NBSlabph

  

Purchase Order and Courier concerns: 09285060961

Patient and Results inquiry: 09285060960, 09285596827, 09189295233

 

CLINICAL GENETICS AND RESEARCH UNIT

The Clinical Genetics and Research Unit provides free comprehensive clinical evaluation, appropriate therapeutic management, genetic counseling, dietary services to indigent families and individuals with or at risk for a genetic or an inheritable disorder. This unit, being the service arm of the institute, looks after patients referred to the Philippine General Hospital (PGH) under the Division of Clinical Genetics of the Department of Pediatrics and other referring health facilities all over the country through face to face and telegenetics consultations.

The unit is composed of three major sub-units: 1) Center for Human Genetics Services (CHGS) 2) Research and Special Projects, and 3) Education and Training. 

 

Helping indigent patients fight their disease

CHGS has two satellite centers in Visayas and Mindanao. The Center for Human Genetic Services are facilities that cover island wide services (Luzon, Visayas, Mindanao) and facilitate comprehensive clinical evaluation, appropriate management (diagnostic and therapeutic), dietary counseling, and  genetic counseling services to families or individuals with genetic conditions.

 

Genetics research for a healthy Filipino

The unit is actively involved in ethically sound and culturally sensitive research which aims to understand the genetic basis of common but complex disorders in the Filipino population.  The Unit collaborates with both local and international researchers on various studies and projects geared towards developing intervention strategies at the doctor-patient level and formulating policies at the national level, thereby improving the standards of genetic healthcare in the country.

 

Training future geneticists

A two-year post-residency fellowship program in Clinical Genetics is offered and designed to provide broad clinical exposure to areas of dysmorphology, biochemical genetics, cytogenetics, molecular genetics and newborn screening programs.  This training program consists of various activities geared towards the advancement of knowledge and skills of trainees in all aspects of clinical genetics including recognition, diagnosis, management and counseling of individuals and families with or at risk for inheritable disorders. 

 

Paving the way for future genetic counselors

A Master of Science in Genetic Counseling program was established in 2011 in order to address the needed genetic counseling workforce in the Philippines.  Genetic counseling is defined as “a process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease” (National Society of Genetic Counselors, 2005).  Graduates of this course are envisioned to assist in the establishment of the field of genetic counseling as part of the clinical medical genetic service, offer genetics education and psychosocial support to individuals and families, develop policies and practice guidelines to serve as patient advocates.  

 

Schedule of clinic and infusion services are as follows:

Outpatient Clinic Services:  

Wednesday and Friday 8am – 12nn

Outpatient Department, Philippine General Hospital

Padre Faura St. Ermita, Manila

 

Metabolic Clinic:

2nd and 4th week of the month 8am – 12nn

PGH-OCRA / Outpatient Department, PGH

 

Dysmorphology Clinic:

1st and 3rd week of the month 8am - 12nn 

PGH-OCRA / Outpatient Department, PGH

 

Enzyme Replacement Therapy:

Pamidronate Infusion for Osteogenesis Imperfecta Patients – Weekly (Tuesday and Thursday)

Aldurazyme Infusion – Weekly (Tuesday/Thursday)

Myozyme Infusion for  – Every 2 weeks (Monday)

Cerezyme Infusion – Every 2 weeks (Tuesday/Thursday)

 

Multidisciplinary Clinic:

Bi-annual (To be scheduled)

 

Osteogenesis Imperfecta Clinic:

Bi-annual (To be scheduled)

 

Patient forums:

To be scheduled

 

CONTACT INFORMATION:

Clinical Genetics and Research Unit

Institute of Human Genetics

The National Institutes of Health

3rd floor, 620 Pedro Gil St., Ermita, Manila 1000

Telephone: 5310-1780 local 108

 

Genetic Fellows mobile: 0928-5060962

Genetic Nurses mobile: 0908-1053909

Email: clinicalgenetics-ihg@upm.edu.ph