UPM Catalogue of Information

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====== Institute of Human Genetics ======

The Institute of Human Genetics (IHG) is the largest provider of genetic services in the country - offering diagnostic, research, and clinical management services in support of the Rare Disease Act (RA 10747), the Newborn Screening Act of 2004 (RA 9288), and other health initiatives of the government.\\
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The seven (7) ISO 9001:2015 certified units of the Institute (Biochemical Genetics Laboratory, Clinical Genetics and Research Unit, Cytogenetics Laboratory, Hemoglobinopathies Reference Unit, Molecular Research and Diagnostic Unit, Newborn Screening Center-NIH, and the General  Administrative Services Unit) provide world-class services, comprehensive patient care and counseling, and lead in genetic technology and research.\\
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**Date of Approval**\\
February 25, 1999\\
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=== Services or Programs Offered ===
**Training Programs**
  - Capacity Building Workshop on the Nutritional Management for Patients with Inborn
  - Errors of Metabolism
  - Capacity Building Workshop for Hemoglobinopathies: From Newborn Screening to Management
  - Supply Management Workshop for Continuity Clinics
  - Genetic Counseling Workshop for medical doctors and nurses
  - How to Spot Newborn Screening Samples Workshop for Newborn Screening Facilities

**Technical Assistance/Consultancy**
  - Genetic Testing and Counseling
  - Metabolic Dietary Counseling
  - GGPD Deficiency Webinar for Parents
  - Hemoglobinopathies Webinar for Parents
  - Comprehensive Technical and Program Exposure for new employees of partner Newborn Screening Centers and DOH Regional Coordinators
  - Lakbay-Aral /Exposure Trip for PGH newborn screening staff
  - Student Immersion Program for Philippine Science High School
  - Advisers of MD-PhD students
  - Laboratory exposure/orientation of representatives from other institutions for benchmarking

== IHG Services ==
**A. Biochemical Genetics Laboratory**
  - Urine Metabolic Screening (UMS)
  - Urine Organic Acid Analysis (OAA)
  - Quantitative Urine Organic Acid Analysis (QUOAA)
  - Comprehensive Urine Metabolic Profile (Combined UMS and OAA) (COMPRE)
  - Plasma Acylcarnitine Analysis (PLAC)
  - Plasma Amino Acid Analysis (PLAA)
  - Cerebrospinal Fluid Amino Acid Analysis (CSAA)
  - Paired (Plasma and Cerebro Spinal Fluid) Amino Acid Analysis (Combined PLAA and CSAA)
  - Overseas Test ( (DNA analysis of PTPS and Urine Pterins) processing
  - Overseas Test (DNA analysis of PTPS and Urine Pterins + DHPR) processing
  - Overseas Test (DNA Analysis of PTPS and Urine Pterins + DHPR (BH4 Loading)) processing
  - Overseas Test (Very Long Chain Fatty Acid (VLCFA) Quantitation) for Adrenoleukodystrophy processing
  - Overseas Test (Dried Blood Spot for the screening of Fabry disease and Pompe Disease)
  - Overseas Test (Dried Blood Spot for the screening of Gaucher disease and Niemann-Pick type A/B disease)
  - Overseas Test (Dried Blood Spot for the screening of MPS I and MPS II)

**B. Clinical Genetics and Research Unit**
  - Patient Management
  - Clinical Evaluation and Management to Admitted Patients
  - Outpatient Metabolic Consultation
  - Enzyme Replacement Therapy (ERT) (for patients with Gaucher, Pompe, Hunter Syndrome, Fabry, Hurler Syndrome)
  - Multidisciplinary Clinic
  - Pamidronate Therapy (for patients with Osteogenesis Imperfecta)
  - Nutrition Assessment and Evaluation (for patients with Inborn Errors of Metabolism)
  - Nutrition Counselling (for patients with Inborn Errors of Metabolism)
  - Genetic Counselling

**C. Cytogenetics Laboratory**\\
⠀⠀1. Chromosome Analysis\\
⠀⠀⠀a. Peripheral Blood\\
⠀⠀⠀b. Bone Marrow\\
⠀⠀⠀c. Solid Tissue\\
⠀⠀2. Fluorescence in situ Hybridization (FISH)\\
⠀⠀⠀a. DiGeorge Syndrome/VCFS\\
⠀⠀⠀b. BCR-ABL Test\\
⠀⠀⠀c. Human Epidermal Receptor Factor-2 (HER-2) Test\\
⠀⠀⠀d. Prader-Willi/Angelman Syndrome\\
⠀⠀⠀e. Williams Syndrome\\
⠀⠀3. Add-On Service\\
⠀⠀⠀a. Expedite Fee \\
⠀⠀⠀b. High Resolution Banding\\
⠀⠀⠀c. Fragile X Screening\\
⠀⠀⠀d. C-Banding\\
⠀⠀⠀e. AgNOR\\
⠀⠀⠀f. Mailing Fee for Results\\
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**D. Molecular Research and Diagnostic Unit - Research Arm**\\
  - Capillary Electrophoresis
**E. Hemoglobinopathy Reference Unit**\\
  - cDNA synthesis, 50 ul reaction
  - Clariom S Assay (per sample)
  - Clariom S Assay (30 samples)
  - DNA extraction, spin-column mini, automated, Blood sample
  - Infinium DNA Methylation Assay (16rxns/kit, per sample)
  - Infinium methylation (16rxns/kit, 16 samples)
  - Infinium methylation (32rxns/kit, per sample)
  - Infinium methylation (32rxns/kit, 32 samples)
  - Microarray Custom Genotyping, 3072-plex (per sample)
  - Microarray Custom Genotyping, 3072-plex (96rxns)
  - Microarray Human Whole Genome Genotyping (per sample)
  - Microarray Human Whole Genome Genotyping (per 16 samples)
  - miRNA array (5 samples per run)
  - miRNA cDNA, per 20 ul reaction
  - miRNA extraction, spin-column mini, manual
  - miRNA PCR array (per sample)
  - PBMC isolation
  - Quantitative Polymerase Chain Reaction (qPCR), 20 ul reaction
  - RNA extraction, spin-column mini, manual
  - RNA quality determination (per sample)
  - RNA quality determination (15 samples per run)
  - Serum separation
  - Elisa Test (Non-kit-based)
  - Elisa Test (Kit-based)
  - EpiTect Bisulfite Conversion Assay
  - EpiTect MethyLight PCR
**F. Molecular Research and Diagnostic Unit - Service Arm**\\
  - Alpha-globin Stripassay Analysis 
  - Alpha-thalassemia Multiplex PCR
  - Beta-globin Stripassay
  - HBA1 and HBA2 Targeted Sequencing
  - HBA1 and HBA2 Sequencing
  - HBB Sequencing
  - HBB Targeted Sequencing
  - Processing Fee for Outsourced Testing
  - DNA Extraction (MINI)
  - DNA Extraction (MIDI)
  - X-linked Dystonia Parkinsonism (XDP) Genetic Analysis
  - Beta-globin Deletion Analysis
  - SMA Genetic Testing via MLPA
  - Referrals for Molecular Diagnostic Testing
**G. Newborn Screening Center**\\
⠀⠀1. Expanded Newborn Screening Kits\\
⠀⠀2. ENBS Tests  - For NSC Partners\\
⠀⠀⠀a. TSH \\
⠀⠀⠀b. 17ohp\\
⠀⠀⠀c. G6pd\\
⠀⠀⠀d. TGAL\\
⠀⠀⠀e. Biotinidase\\
⠀⠀⠀f. Hb Resolve\\
⠀⠀⠀g. MSMS\\
⠀⠀⠀h. CF\\
⠀⠀⠀i. Monitoring Cards\\
⠀⠀3. NBS Blood Collection Card  for NSC partners and Research use\\