Samples for cytogenetic testing are accepted by the Department of Pathology 24 hours a day, 7 days a week. Please read Specimen Handling Requirements
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TEST NAME & TAT |
CLINICAL CONDITION |
SPECIMEN TYPE |
COLLECTION |
PROCESSING |
SHIPPING |
| Prenatal chromosome analysis (7-14 days) |
Prenatal chromosome study; karyotype |
Amniotic fluid |
Discard first 2mL of amniotic fluid. Collect 15-25mL in a sterile syringe. |
Use sterile technique to transfer to 15mL sterile screw-top plastic conical tubes for transport. Do not centrifuge. Uniquely identify twins. Note the gestational age in weeks. |
Maintain at room temperature. |
| Constitutional blood (14 days; STAT available) |
Chromosome study; karyotype; G-banding test |
Peripheral blood |
Infants--collect 1-2mL; Pediatric up to age 5--collect 2-5mL; Adults--collect 5-10mL into a sterile 15mL sodium heparin green-top vacutainer tube. |
Invert tube immediately upon completion of blood collection to prevent formation of clots. |
Maintain at room temperature. Send to laboratory the same day it is collected. |
Chorionic villi sampling;
amniocentesis (7-14 days) |
Prenatal chromosome study; karyotype; first trimester chromosome testing |
Chorionic villi |
Collect 20-35mg of budding villi in 15mL screw-top plastic conical tubes. |
Our lab will provide the screw-top tubes containing sterile transpost media. Note the gestational age in weeks. Do not centrifuge. |
Maintain at room temperature. |
| Leukemia or lymphoma (14-21 days; STAT available) |
Chromosome study; karyotype; G-banding test; Philadelphia chromosome test; hematologic chromosome testing |
First draw, spicule-rich bone marrow aspirate; peripheral blood; bone core biopsy; lymph node; or effusion.
Bone marrow is specimen of choice forleukemia. Peripheral blood is choice for CLL or CGH. |
Collect 1-2mL bone marrow; 5-10mL blood; 0.5-1cm2 biopsy (bone core; lymph node). Collect bone marrow or blood in a sterile pediatric (5mL) sodium heparin (green-top) vacutainer tube, or sterile syringe containing sodium heparin (add no more than 0.3-0.5mL of heparin [concentration 1000U/mL] to a 1-3mL sample) |
Invert tube immediately upon completion of blood collection to prevent formation of clots. For bone marrow it is important that a first draw, spicule-rich sample be collected. |
Send to lab ASAP. Maintain at room temperature. |
| Tissue products of conception; skin (21-42 days) |
Spontaneous abortion chromosome studies; miscarriage chromosome studies; placental tissue chromosome analysis; long-term culture; monolayer culture; fibroblast chromosome study; tissue karyotype |
Products of conception (POCs), including villi; placental biopsy; tissue; skin biopsy; other non-neoplastic tissue, such as lung.
Fetal tissue is specimen of choice for POCs. In case of fetal demise with delivered fetus, a skin or organ specimen might be appropriate. |
Collect 3-4mm2 biopsy (about the size of a pencil eraser) by sterile procedure.
For POCs, villi are specimen of choice (can send sample and lab will select villi). |
Uniquely identify twins. |
Maintain at room temperature. If transit is to be delayed for more than one day, refrigerate the sample. Do not freeze. |
| Percutaneous umbilical blood sampling (PUBS) (2-3 days) |
Cordocentesis; periumbilical blood sampling; fetal blood sampling; prenatal chromosome study |
Fetal blood |
Collect 1-3mL in sterile, 15mL sodium heparin (green-top) vacutainer tube. Collect under ultrasound guidance. |
Invert tube immediately upon completion of blood collection to prevent formation of clots. |
Send to lab the same day sample was collected. Maintain at room temperature. |
| Solid tumor--contact the lab supervisor (804-828-9632, ext. 120) prior to surgery or needle aspiration to facilitate optimal specimen collections. (5-14 days) |
Chromosome analysis; karyotype; G-banding test |
Sterile, non-necrotic tissue from tumor |
Collect 3-4mm2 biopsy (about the size of a pencil eraser) in a sterile, screw-top container filled with sterile saline, Ringer's solution, Hank's balanced salt solution or transport media provided by our cytogenetics lab.
Do not use urine specimen collection cups. Ensure the container is tightly sealed to prevent leakage. |
|
Maintain at room temperature. If transit is to be delayed for more than one day, refrigerate the sample. Do not freeze. |
| AneuVysion (Rapid) Screen & Prenatal Chromosome Analysis (prelim in 1-2 days) |
Prenatal chromosome study with rapid screen for chromosomes X,Y,13,18,21. |
Amniotic fluid |
Discard first 2mL of amniotic fluid. Collect 18-30mL in a sterile syringe. Non-bloody fluid required. |
Use sterile technique to transfer to 15mL plastic conical tubes for transport. Do not centrifuge. Uniquely identify twins. Note the gestational age in weeks. |
Maintain at room temperature. |
| FISH studies (prelim in 1-14 days; STAT available) |
Identify specific chromosomal findings such as translocations, inversions, or aneuploidies |
Bone marrows; prenatal cases (amniotic fluid or villi); peripheral blood; products of conception; paraffin blocks |
Follow specimen requirements for tissue type. |
|
Maintain at room temperature. |
| Subtelomere study (14-21 days) |
Identify cryptic chromosomal imabalances. |
Peripheral blood (check with lab for other tisues). |
Infants--collect 1-2mL; pediatric up to age 5--collect 2-5 mL; age 5 to adult--collect 7-10mL into a sterile sodium heparin green-top vacutainer. |
Invert tube immediately upon completion of blood collection to prevent clot formation. |
Maintain at room temperature. Send to laboratory the same day it is collected. |
| Spectral karyotyping (14-21 days; STAT available) |
Chromosome study using 24 colored probes to identify multiple chromosomal changes |
Bone marrows; prenatal cases (amniotic fluid or villi); peripheral blood; products of conception; or slides with chromosomes (from outside labs) |
Follow specimen requirements for tissue type. |
|
Maintain at room temperature. |
