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Cytogenetic TestingHealthLink
CYTOGENETIC TESTING
  • CYTOGENETIC TESTING AVAILABLE THROUGH HEALTHLINK LABORATORY IS PRIMARILY PROVIDED BY ADVANCED CYTOGENETICS, INC.
  • FOR OPTIMAL VIABILITY OF THE SPECIMEN, IT SHOULD BE SENT TO ADVANCED CYTOGENETICS LAB ON THE SAME DAY OF COLLECTION.
  • COURIERS PICK UP SPECIMENS MONDAY THROUGH FRIDAY AT 11:30 A.M.
  • IN THE EVENT THAT GENETIC TESTING IS REQUESTED OTHER THAN MONDAY - FRIDAY, PLEASE CALL SPECIMEN PROCESSING DEPARTMENT AT (770) 538-7396, EXT. 1416.


THE FOLLOWING GENETIC TESTS ARE AVAILABLE AT ADVANCED CYTOGENETICS, INC.




AMNIOTIC FLUID CHROMOSOME STUDY:
Amniocentesis should be performed during the second trimester (usually 16¬18 weeks gestation). Twenty to 30 milliliters of amniotic fluid should be collected using sterile technique. Smaller samples may require more time for sufficient cell growth. All amniotic fluid samples should be placed in sterile, tightly capped, plastic containers 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 which contains cytotoxic material (e.g., rubber stoppers or metal caps). DO NOT REFRIGERATE OR FREEZE.
 



BLOOD CHROMOSOME STUDY:
Draw 5 mL of blood into a green top vacutainer (sodium heparin only) using sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Specimens from newborns and children are requested to be a minimum of 3 mL, although every effort will be made to analyze specimens as small as 1 mL. Maintain specimens at room temperature (65¬80°F) and send to the laboratory as soon as possible to maximize viability of cells. Infrequently, cells do not grow in tissue culture and a second blood specimen may be requested. DO NOT REFRIGERATE OR FREEZE.
 



BLOOD CHROMOSOME STUDY FOR HEMATOLOGIC MALIGNANCY (INCLUDES PHILADELPHIA CHROMOSOME):
Draw 5 mL of blood into a green top vacutainer (sodium heparin only) using sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Specimens from newborns and children are requested to be a minimum of 3 mL, although every effort will be made to analyze specimens as small as 1 mL. Maintain specimens at room temperature (65¬80°F) and send to the laboratory as soon as possible to maximize viability of cells. Infrequently, cells do not grow in tissue culture and a second blood specimen may be requested. DO NOT REFRIGERATE OR FREEZE.




BLOOD CHROMOSOME STUDY AND BREAKPOINT CLUSTER REGION ANALYSIS:
Two separate tubes are required for this panel. Draw 5 mL into two green top vacutainers (sodium heparin only) observing sterile technique. Invert both tubes gently several times to ensure mixing of anticoagulant. Both samples should be submitted ambient. Maximum stability is 48 hours at room temperature. DO NOT REFRIGERATE OR FREEZE.




BONE MARROW CHROMOSOME STUDY:
It is recommended that all samples be obtained prior to the initiation of therapy, although it is not a requirement. Both a bone marrow and a peripheral blood sample should be submitted for each patient. A non¬dilute specimen of bone marrow is necessary for adequate number of metaphase cells. Two to three 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 green top vacutainer, observing sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Because viable cells are needed, keep the specimen at room temperature (65¬80°F). It is recommended that the drawing of bone marrow be scheduled to allow same day transport to the lab, Monday through Friday. DO NOT REFRIGERATE OR FREEZE.
In addition to the bone marrow, draw 5 mL of blood into a lavender top vacutainer (EDTA) using sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Specimens from newborns and children are requested to be a minimum of 3 mL, although every effort will be made to analyze specimens as small as 1 mL. 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. Infrequently, cells do not grow in tissue culture and a second blood specimen may be requested. Information concerning the clinical diagnosis, collection date and time, previous history of chemotherapy, and current peripheral white blood cell count and percent blasts should be included with the physician’s name and telephone number on the genetic test request form.

 




BONE MARROW CHROMOSOME STUDY FOR HEMATOLOGIC MALIGNANCY:

It is recommended that all samples be obtained prior to the initiation of therapy, although it is not a requirement. Both a bone marrow and a peripheral blood sample should be submitted for each patient. A non¬dilute specimen of bone marrow is necessary for adequate number of metaphase cells. Two to three 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 green top vacutainer, observing sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Because viable cells are needed, keep the specimen at room temperature (65¬80°F). It is recommended that the drawing of bone marrow be scheduled to allow same day transport to the lab, Monday through Friday. DO NOT REFRIGERATE OR FREEZE.
In addition to the bone marrow, draw 5 mL of blood into a lavender top vacutainer (EDTA only) using sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Specimens from newborns and children are requested to be a minimum of 3 mL, although every effort will be made to analyze specimens as small as 1 mL. 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. Infrequently, cells do not grow in tissue culture and a second blood specimen may be requested.
Information concerning the clinical diagnosis, collection date and time, previous history of chemotherapy, and current peripheral white blood cell count and percent blasts should be included with the physician’s name and telephone number on the genetics test request form.

 




BONE MARROW CHROMOSOME STUDY AND BREAKPOINT CLUSTER REGION ANALYSIS:
It is recommended that all samples be obtained prior to the initiation of therapy, although it is not a requirement. Both a bone marrow and peripheral blood sample should be submitted for each patient. A non¬dilute specimen of bone marrow is necessary for adequate number of metaphase cells. Two to three 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 green top vacutainer, observing 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 the drawing of bone marrow be scheduled to allow same day transport to the lab, Monday through Friday. DO NOT REFRIGERATE OR FREEZE.
In addition to the bone marrow, draw 5 mL of blood into a lavender top vacutainer (EDTA) using sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Specimens from newborns and children are requested to be a minimum of 3 mL although every effort will be made to analyze specimens as small as 1 mL. 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. Infrequently, cells do not grow in tissue culture and a second blood specimen may be requested.
 



FRAGILE X CHROMOSOME STUDY:
Submit 10 mL whole blood in 2 lavender top (EDTA) vacutainer tubes. Draw 5 mL of blood into a green top vacutainer (sodium heparin only) using sterile technique. Invert the tube gently several times to ensure mixing of the anticoagulant. Specimens from newborns and children are requested to be a minimum of 3 mL although every effort will be made to analyze specimens as small as 1 mL. 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. Infrequently, cells do not grow in tissue culture and a second blood specimen may be requested.

 




LYMPHOMA CHROMOSOME STUDY:
Wrap lymphoma specimen in sterile gauze and place in sterile tube or container. Moisten gauze with sterile physiologic saline or tissue culture medium. Do not submerge tissue in liquid, but add sufficient volume to prevent dehydration during shipping. Alternatively, a sterile cell suspension may be made and sent immediately to Nichols Institute for culture. Keep specimens at room temperature (65¬80°F). DO NOT REFRIGERATE OR FREEZE. Complete the requested information and the referring physician’s name and telephone number.




SISTER CHROMATID EXCHANGE CHROMOSOME STUDY:
If environmental mutagens are expected, the submission of a sample from a carefully selected control subject is important. If at all possible, the control should match the subject in sex, age, general health, and, in particular, smoking and caffeine ingestion habits. Collection of the sample should be timed to avoid recent viral infections, medication (3¬4 weeks), x¬rays (3 months), and alcohol (24 hours). Failure to include a control sample makes significant interpretation of the patient sample virtually impossible, except for patients with Bloom’s syndrome. Draw 5 mL of whole blood from both subject and control into separate green top vacutainers (sodium heparin only) observing sterile technique. A minimum of 3 mL is requested. Invert the tubes gently several times to ensure mixing of the anticoagulant. Because viable cells are needed, keep the specimens at room temperature (65¬80°F). DO NOT REFRIGERATE OR FREEZE. A genetics test request form should be completed including patient history, clinical information, and referring physician’s name and telephone number.

 




TISSUE CHROMOSOME STUDY:
If 48 hours or more have lapsed since fetal demise or stillbirth, the chances of successful tissue culture are diminished significantly. In such cases, karyotyping of parental peripheral blood samples may be considered as an alternative. STERILE TECHNIQUE IS CRITICAL FOR ALL SOLID TISSUE SAMPLES. DO NOT USE FIXATIVE.

 




PRODUCTS OF CONCEPTION:
Obtain 2 x 3 mm samples from any of a variety of tissues such as skin, fetal membranes, lung tissue, kidney, small bowel, etc. Submit a separate sample container for each specimen obtained. If no fetal parts are identifiable, fetal membrane tissue will suffice.

 




AUTOPSY (STILLBIRTHS):
If delivery was under sterile conditions, a 2 x 3 mm biopsy specimen of skin is suitable. Otherwise, a 2 x 3 mm sample of fascia latae from the thigh will suffice.

 


 


SKIN BIOPSY:
Cleanse a biopsy site, usually on forearm, with an antiseptic soap (e.g. pHisohex). Wipe excess soap with a sterile gauze pad. Do not use an alcohol or iodine preparation to cleanse the skin. A local anesthetic may be used at the biopsy site. A punch biopsy (3 x 5 mm) should include full thickness of dermis. A single biopsy specimen should suffice. Several options for collection are acceptable. Choice may depend upon the tissue source. Options include:
1. Place the specimen in a sterile plastic tube containing 5 mL of sterile physiologic saline.
2. Wrap the specimen in sterile gauze, moisten thoroughly with sterile saline, and place in a sterile plastic tube.
3. Place the specimen in a sterile, plastic tube containing 5 mL of 20% serum in sterile, physiologic saline. Either sterile fetal calf serum or the patient’s serum is acceptable.
4. Place the specimen in a sterile, plastic tube containing 5 mL of 20% fetal calf serum in tissue culture medium.

Keep all specimens at room temperature (65¬80°F). DO NOT REFRIGERATE OR FREEZE.
A genetics test request form should be completed including patient history, clinical information, and referring physician’s name and telephone number.

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