Karyotype / Chromosome Analysis

Service Description

Sample: BLOOD Results: 4 - 6 weeks Phlebotomy fee: £15 ABOUT CHROMOSOME ANALYSIS Chromosome analysis (karyotyping) is a genetic test that examines the number, size and structure of chromosomes in a sample of your cells. Our referral laboratory performs this test using the standard G-BANDING (Giemsa banding) technique, allowing trained specialists to identify visible chromosomal abnormalities. WHY IS IT IMPORTANT? 1. Diagnosis of Genetic Disorders: Chromosomal Abnormalities ( e.g. Down syndrome), large structural abnormalities (e.g., translocations, deletions, duplications) and congenital anomalies 2. Infertility and Miscarriage: The test can identify chromosomal abnormalities that may contribute to infertility, recurrent pregnancy loss or reproductive problems. 3. Cancer Diagnosis and Treatment: Certain leukaemia's and lymphomas are associated with characteristic chromosomal abnormalities. Chromosome analysis may assist clinicians with diagnosis, prognosis and treatment planning where appropriate. 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 * Down syndrome (Trisomy 21) * Edwards syndrome (Trisomy 18) * Patau syndrome (Trisomy 13) * Turner syndrome (45,X) * Klinefelter syndrome (47,XXY) * Triple X syndrome (47,XXX) * XYY syndrome (47,XYY) LIMITATIONS Chromosome analysis is designed to detect visible chromosome abnormalities. It does not reliably detect small genetic changes, single-gene disorders (such as Fragile X syndrome), or very small chromosomal deletions or duplications (microdeletions and microduplications). Additional molecular genetic tests may be recommended where clinically appropriate.