Cytogenetic Sampling PDF

LAB.4 genetic Dr.Estabraq Almuhanna ,Dr.Zainab AlKhalidi Cytogenetic sampling Cytogenetics involves testing samples of tissue, blood, or bone marrow in a laboratory to look for changes in chromosomes, including broken, missing, rearranged, or extra chromos...

LAB.4 genetic Dr.Estabraq Almuhanna ,Dr.Zainab AlKhalidi Cytogenetic sampling Cytogenetics involves testing samples of tissue, blood, or bone marrow in a laboratory to look for changes in chromosomes, including broken, missing, rearranged, or extra chromosomes. Changes in certain chromosomes may be a sign of a genetic disease or condition or some types of cancer. Why is cytogenetics important? Cytogenetics plays a key role in the detection of chromosomal abnormalities associated with malignancies, as well as the characterization of new alterations that allow more research and increase knowledge about the genetic aspects of these diseases. There are many specific samples requirements for cytogenetic: 1. Blood samples: a. EDTA tube or heparinised tube. b. Transport at room temperature (or refrigerated) to arrive within 3 days of collection. c. Volume: Adults 2-5mls, Children 1-2mls, Fetal/Neonates 0.5-1ml. d. Urgent samples should arrive in the same day e.g. fetal/neonatal samples and samples relating to ongoing pregnancy and without freeze samples. 2. Buccal samples: Transport at room temperature (or refrigerated) to arrive within one day of collection (sample should be sent without delay as any delay may impact test performance). LAB.4 genetic Dr.Estabraq Almuhanna ,Dr.Zainab AlKhalidi 3. Amniotic fluid samples: What is the test for amniotic fluid? 1.test offered during pregnancy to check if your baby has a genetic or chromosomal condition, such as Down's syndrome, Edwards' syndrome or Patau's syndrome. It involves removing and testing a small sample of cells from amniotic fluid, the fluid that surrounds the baby in the womb (uterus). 2. Volume: 10-20mls. 4. Chorionic Villi samples (CVS): How is chorionic villi sampling done? 1.A needle is inserted through your skin into the womb and guided to the placenta using the image on the ultrasound scan. 2. A syringe is attached to the needle, which is used to take a small sample of cells from the chorionic villi. After the sample is removed, the needle is removed. LAB.4 genetic Dr.Estabraq Almuhanna ,Dr.Zainab AlKhalidi 5. Fetal tissue samples / Products of Conception (POC): What is POC? 1.The POC test analyzes fetal tissues from a miscarriage to determine if the lost pregnancy was the result of a chromosomal aneuploidy. 2.This test can provide you an important information about the possible causes of your patient's miscarriage to help them to plan any future pregnancy. LAB.4 genetic Dr.Estabraq Almuhanna ,Dr.Zainab AlKhalidi 6. Lymph node biopsy: 1.A chromosome analysis on lymph node may be clinically significant to identify and diagnose acquired neoplastic conditions associated with lymphoma and indications such as, mantle cell lymphoma. 2. It may also be relevant in cases to confirm or exclude the diagnosis of lymphoma based on morphology and track progress of treatment.