Cytogenetics Laboratory

Chromosomes and Disease
The Cytogenetics Laboratory provides services for both diagnostic and research for diseases associated with chromosomal abnormalities including multiple birth defects, mental retardation, abnormal sexual development, infertility and multiple miscarriages.
Chromosomal abnormalities are an important cause of congenital disorders. These can result from anomalies in chromosome number or structure. Anomalies in chromosome number include aneuploidies, polyploidies, trisomies, and monosomies. Anomalies in chromosome structure include deletions, translocations, inversions, ring chromosomes, duplications, and insertions.
Chromosome studies are done on dividing nucleated cells. These cells are obtained from the peripheral blood, solid tissue, or bone marrow. For prenatal diagnosis, samples are taken from the amniotic fluid, chorionic villi, or fetal blood. In karyotyping, the cells are cultured, arrested  during metaphase, fixed, and then stained. Chromosomes are systematically arranged according to size. Gross abnormalities in chromosome number and structure can be detected by karyotyping. Others, such as microdeletions and cryptic translocations, can only be detected by fluorescence in-situ hybridization (FISH) and high resolution banding. In FISH, fluorescent molecular probes are used to determine the presence or absence of homologous DNA sequences on the chromosome spread. In high-resolution banding, modified staining techniques are used to obtain chromosome bands.
If a patient is suspected to have a chromosomal abnormality, the Cytogenetics Unit offers a wide range of services that can aid you and other medical experts in accurate genetic diagnosis and counseling. The laboratory carries out the following:

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
    h.    AgNOR

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

Download Cytogenetics Brochure


For further inquiries, contact the Cytogenetics laboratory-NIH at telephone numbers: (02) 5310-1780 / 5310-0788 local 107, Hotline: 0928-5060963

Mailing Address
    Cytogenetics Laboratory
    Institute of Human Genetics
    National Institutes of Health Building
    University of the Philippines Manila
    Pedro Gil Street, Ermita, Manila 1000