Karyotype / Chromosome Analysis

Service Description

Sample: BLOOD Results: 4 - 6 weeks Phlebotomy fee: Included in price ABOUT CHROMOSOME ANALYSIS Chromosome Analysis (or Karyotype/) is a genetic test that examines the size, shape, and number of chromosomes in a sample of cells from your body. Chromosomes are structures within cells that contain your genes, which carry the genetic information that determines your traits and characteristics. WHY IS IT IMPORTANT? 1. Diagnosis of Genetic Disorders: Chromosomal Abnormalities ( e.g. Down syndrome), structural abnormalities (e.g., translocations, deletions, duplications) and congenital anomalies 2. Infertility and Miscarriage: Can identify chromosomal abnormalities that might be causing infertility or recurrent miscarriages. 3. Cancer Diagnosis and Treatment: Certain leukaemia's and lymphomas are associated with specific chromosomal abnormalities, which can guide diagnosis and treatment strategies. 5. Developmental Delays and Intellectual Disabilities: Chromosome analysis can be used to investigate the genetic basis of developmental delays and intellectual disabilities in children. CHROMOSOMAL ABNORMALITIES SYNDROMES -- Klinefelter Syndrome (47, XXY): An extra X chromosome in males. -- Triple X Syndrome (47, XXX): An extra X chromosome in females. -- XYY Syndrome (47, XYY): An extra Y chromosome in males. -- DiGeorge Syndrome (22q11.2 Deletion Syndrome): Deletion of a small piece of chromosome 22.