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Specimen Requirements

 


 

Blood Collection and Shipping Instructions – Including Cord Blood

Exceptions: Blood is accepted for all tests except if the patient has ever received a heterologous bone marrow transplant.
 Kits: Standard GeneDx Blood kit available free for US & Canadian clients
Volume: One EDTA (lavender top) tube containing 2-5 mL whole sterile blood. Several tests usually can be performed on one 3 mL blood specimen. 3-5 mL is the preferred volume for adults but 1-2 mL is acceptable for infants.
Labeling: Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. If Cord Blood, state so on both the tube and the paperwork
Stability: Can be refrigerated up to 7 days before shipping. Blood specimens older than 7 days can still be shipped; they will be tested if the yield and quality of DNA permit. This statement supersedes all previous statements of shorter stability conditions for any test. 11-21-07
Rejection: Blood specimens will be rejected if frozen, hemolyzed or clotted.
Shipping: Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. Specimens can be refrigerated for 7 days before shipping. In hot weather a cool pack can be enclosed. 

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

Buccal Brush Collection and Shipping Instructions

Exceptions: Please check the Alternative Specimens List to see tests for which buccal brushes can be used.
 Kits: Use only GeneDx buccal brush kits. Click here to order kits (Free for US & Canadian clients)
Volume: Two brushes with transport solution are included in each kit. Several tests usually can be performed on one pair of buccal brushes. To view the specimen collection instructions, click here.
Labeling: Use the provided labels to put the patient name on both transport tubes. 
Stability: Stable at ambient temperature for 14 days after collection. Buccal specimens older than 14 days can still be shipped; they will be tested if the yield and quality of DNA permit.
Rejection: We have had less success in obtaining adequate DNA from buccal brush specimens on infants under the age of 6 months. Therefore, we request blood specimens (1-2 cc of whole blood in EDTA) on small babies.
Shipping: Using the mailer provided, return buccal brush specimens to GeneDx by postal service at ambient temperature. Shipping costs are generally the responsibility of the sender. GeneDx does not accept responsibility for shipping costs associated with samples sent to us.

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

DNA Requirements

Laboratory Technique / Test Type Minimum concentration Minimum total amount Minimum quantity at minimum concentration
Conventional DNA Sequencing  50 ng/µL  5,000 ng (5 µg)  100 µL
Noonan Syndrome Spectrum Disorder Panel  50 ng/µL  6,000 ng (6 µg)  120 µL
XomeDx  50 ng/µL  15,000 ng (15 µg)  300 µL
All Cardiology Tests  50 ng/µL  20,000 ng (20 µg)  400 µL
Epilepsy Panels   50 ng/µL  10,000 ng (10 µg)  200 µL
All Other Neurology Panels / Mito Nuclear Panels / Oncology Tests  50 ng/µL  20,000 ng (20 µg)  400 µL
GenomeDx OligoArray CGH  50 ng/µL  3,000 ng (3 µg)  60 µL
ExonArrayDx  50 ng/µL  3,000 ng (3 µg)  60 µL
CopyDx qPCR and/or MLPA  25 ng/µL  3,750 ng (3.75 µg)  150 µL

 

Kit: Standard GeneDx Blood Kit 
Labeling: Name of person or identifier, DNA concentration and volume MUST be provided on the specimen tube.
Stability: Ship DNA in sealed and protective packaging at ambient temperature, using a cool pack in hot weather.
Shipping: An express courier service is recommended for tracking purposes. Shipping costs are generally the responsibility of the sender. GeneDx does not accept responsibility for shipping costs associated with samples sent to us

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

Prenatal/POC Specimen Collection and Shipping Instructions

Please call 301-519-2100 or email prenatal@genedx.com in advance to discuss prenatal cases.

Click here for prenatal specimen requirements.

Labeling: Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. If the tissue source is Products of Conception (POC) state this clearly and state whether the tissue was fetal or placental in origin.
Kits:  Prenatal Amnio and CVS/POC kits are available free for US & Canadian clients
Stability: Cultures must be topped off with sterile medium immediately before shipping. All specimens, including Placental POCs will be tested for maternal cell contamination (MCC). Send a maternal blood or buccal sample for comparison. Other relatives’ specimens may be required. If the tissue source is products of conception (POC) state this clearly and state whether the tissue was fetal or placental in origin. Placental POC cultures require maternal cell contamination testing and a maternal blood specimen is required for comparison
Shipping: Ship overnight at ambient temperature, to arrive Monday-Saturday. In hot weather a cool pack can be enclosed. Shipping costs are generally the responsibility of the sender. Shipping costs are generally the responsibility of the sender. GeneDx does not accept responsibility for shipping costs associated with samples sent to us.

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

Other Cultured Adherent Cells* (not Amnio/CVS), Collection and Shipping Instructions

Volume: Send 2 T25 flasks near confluence, sterile. Please state the tissue of origin.
Labeling: Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number.
Stability: Cultures must be topped off with sterile medium immediately before shipping. Always establish and keep backup cultures but do not send them unless requested to do so by GeneDx.
Shipping: Ship overnight at ambient temperature, to arrive Monday-Saturday. In hot weather a cool pack can be enclosed. Shipping costs are generally the responsibility of the sender. GeneDx does not accept responsibility for shipping costs associated with samples sent to us.

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

* Non-adherent cells such as lymphoid cell lines will be accepted but it is the sender’s responsibility to write “Non-Adherent Cells” with bold marker on the flask and paperwork.

Non-Standard Tissue Types

Other tissue types containing nucleated cells can often be tested even if not listed on that gene’s Information Sheet. Nevertheless, some tissue types are not recommended and will only be accepted in extraordinary circumstances with prior approval.


For testing of mitochondrial DNA:
Tissue biopsies (muscle or liver) are preferred. Please submit ~50mg, frozen within minutes after collection, stored at -80 degrees C and shipped on dry ice with overnight delivery.

Bone Marrow:
1-3 mL fresh sterile bone marrow in EDTA or Sodium Heparin. The anticoagulant should be clearly stated. BONE MARROW must be clearly indicated on the tube and paperwork. Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday, but specimens can be refrigerated for 4 days before shipping. Specimens will be rejected if frozen, hemolyzed or clotted. Specimens older than 5 days can still be shipped; they will be tested if the yield and quality of DNA permit. Prior approval is not required.

Fresh (Unfixed) Solid Tissue from Biopsy or Autopsy including Fetal Demise:
Call first for approval.
Tissues should be those with a high density of nuclei, such as liver, lymph node, lung or skin. The minimum specimen size is a cube 0.5 cm on each side. Flash-freeze and ship frozen on dry ice for overnight arrival on Monday-Saturday. Specimens must arrive frozen. Isolation of usable DNA is not guaranteed.

Leukocytes Fixed for Cytogenetic Analysis:
NOT RECOMMENDED. Call first for approval.
If approved, mark the tube and paperwork “CAUTION FIXED CELLS”. Isolation of usable DNA is not guaranteed. Ship at ambient temperature overnight.

Fixed, Paraffin-Embedded Solid Tissue or Cell Pellets:
NOT RECOMMENDED. Call first for approval.
Usually restricted to cases where the patient is deceased. Isolation of usable DNA is not guaranteed. The tissue must be cell-dense with abundant nuclei, e.g. kidney, liver, lung, pancreas, lymph node. The tissue should be a cube measuring 0.5 cm on each side, or the equivalent. Mounted slides are never accepted. If approved, ship or mail at ambient temperature. Specimens cannot be returned.

Shipping costs are generally the responsibility of the sender. GeneDx does not accept responsibility for shipping costs associated with samples sent to us.

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

Oral Rinse Specimen Requirements

Oral rinse (OR) specimens are accepted for certain tests in situations when drawing and shipping blood is impractical. Blood samples in EDTA are always preferred. Testing via oral rinse may cause a delay in the reporting of results in some cases. DNA yield from some specimens may not be sufficient to complete testing. Refer to the online test description or the above Alternate Specimen List for test availability.

Exceptions: Oral rinse specimens should not be used after allogeneic bone marrow transplant, since a large fraction of the harvested cells are leukocytes. Please check the Alternative Specimens List to see tests for which oral rinse can be used.
 Kits: Complementary oral rinse kits are available for US and Canadian clients. Other rinse kits and pure saliva samples are not accepted. To order kits, please visit www.genedx.com/supplies or email zebras@genedx.com.
Volume: At least 30 mL of Scope oral rinse in a 50 mL centrifuge tube. To view the specimen collection instructions, click here.
Labeling: Label with the patient name, date of birth, and the date of collection.
Stability: Stable at ambient temperature or refrigerated for 10 days after collection. DO NOT FREEZE.
Rejection: Oral rinse specimens will be rejected if submitted for any test for which Oral Rinse is not listed as an alternative specimen, if there is insufficient volume, or if the patient has had an allogeneic bone marrow transplant. In rare cases, the turnaround time can be delayed because of quality of DNA in oral rinse specimens. In those cases, GeneDx may request an additional sample.
Shipping: Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. Specimens can be refrigerated for 10 days before shipping.

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

Dried Blood Spots Specimen Requirements

Dried blood spots (DBS) are accepted for certain tests in situations when drawing and shipping whole blood in liquid form is impractical. Whole blood samples are always preferred because of restrictions imposed by the small sample size of dried spots. DNA yield from some individuals may not be sufficient to complete testing. Refer to the online test description or the above Alternate Specimen List for test availability.

Exceptions: Blood specimens of any type should not be used after allogeneic bone marrow transplant. Please check the Alternative Specimens List to see tests for which dried blood spots can be used.
 Kits: GeneDx DBS kits containing cards, lancets, and mailers are available for GeneDx clients. To order a kit, please email zebras@genedx.com. Other cards will be accepted if there are at least 8 separate spots per person, of 10 mm diameter, completely filled.
Volume: Two GeneDx DBS cards must be submitted with all 4 circles on BOTH cards filled completely. To view the specimen collection instructions, click here.
Labeling: Label with the patient name, date of birth, and the medical record #.
Stability: The blood on the DBS cards should dry at room temperature for at least 3 hours after collection. 
Rejection: Dried blood spots will be rejected if submitted for any test for which DBS is not listed as an alternative specimen, if there is insufficient volume, or if the patient has had an allogeneic bone marrow transplant.
Shipping: Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday.

Ship to:
GeneDx
207 Perry Parkway
Gaithersburg MD 20877
Phone: 1-301-519-2100

 

 

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