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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