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Testing Catalog
Collection Protocols: Genetics Collection
3406 - CHROMOSOME ANALYSIS AND AFP, AMNIOTIC FLUID
Amniocentesis should be performed during the second trimester (usually 14-18 weeks gestation). Ultrasound done prior to the amniocentesis provides valuable information. For example, ultrasound can determine multiple gestation or fetal demise. In addition, biparietal diameter and abdominal circumference and femur length is used to confirm gestational age. Most importantly, the amount and location of amniotic fluid within the uterus can be determined. Thus, ultrasound minimizes the risk of fetal injury and assures that adequate amniotic fluid will be obtained for laboratory analysis.

Twenty to 30 mL of amniotic fluid should be collected using sterile technique. Smaller samples or bloody samples may require more time for sufficient cell growth. All amniotic fluid samples should be placed in sterile, tightly capped, plastic tubes at room temperature (65-80°F) and sent to the laboratory as soon as possible. Specimens should not be sent in syringes, vacutainers, or any container that contains cytotoxic material (e.g., rubber stoppers or metal caps). DO NOT REFRIGERATE OR FREEZE. Include patient history, clinical information, and the referring physician's name and phone number.


3405 - CHROMOSOME ANALYSIS, BLOOD
Draw 5 mL of blood into a sodium heparin tube only using sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Specimens from newborns and children should be a minimum of 3 mL although specimens as small as 1 mL will be processed. Maintain specimens at room temperature (65-80°F) and send to the laboratory as soon as possible to maximize viability of cells. DO NOT REFRIGERATE OR FREEZE. Include patient history, clinical information, and the referring physician's name and phone number.

NOTE: Chromosome studies require viable cells; specimens should be received in 24-48 hours.


3407 - CHROMOSOME STUDY FOR HEMATOLOGIC MALIGNANCY, BONE MARROW
It is recommended that all samples be obtained prior to the initiation of therapy although, not required. The single most common cause for culture failure of bone marrow is an inadequate bone marrow sample. A non-dilute specimen of bone marrow is necessary for an adequate number of metaphase cells. Ideally, 2-3 mL of the initial aspiration in a sterile, heparinized syringe from a repositioned needle is best. Use sodium heparin only. Transfer the sample into a sodium heparin tube using sterile technique. Invert the tube gently several times to ensure mixing of anticoagulant.

Because viable cells are needed, keep the specimen at room temperature (65-80°F). It is recommended that drawing of bone marrow be scheduled to allow same day transport to the laboratory, Monday through Thursday. DO NOT REFRIGERATE OR FREEZE.

If a bone marrow sample cannot be obtained, peripheral blood can be used provided there are enough (5%) circulating blasts. For chronic lymphocytic leukemia, the preferred specimen is peripheral blood. However, bone marrow can also be used.

Information concerning the clinical diagnosis, collection date and time, previous history of chemotherapy, and current peripheral white blood cell count and percent blasts should also be included with the physician's name and phone number.

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