Specimen requirements

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We are unable to accept buccal swabs from patients who have received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant. DNA from cultured fibroblasts is the required specimen type. GeneDx can provide a skin punch biopsy kit and can culture fibroblasts onsite, as needed. For more information email [email protected].

Complimentary buccal swab kits are available for US and Canadian clients. To order kits, please visit our supplies page or email [email protected]. Contents include sponge swab, transport tube with tinted stabilizer solution, label for tube, and shipping box.

Follow enclosed directions.

Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. Name and 2nd identifier on the specimen label must match what is on the test order.

Specimens may be held at room temperature before overnight shipping for up to 1 week (preferred) or up to 60 days (manufacturer’s limit).

Specimens will be rejected if the tinted stabilizing solution leaks out or if the transport tube is not labeled with patient name and additional ID.

Use the FedEx Clinical Pak provided. Ship overnight for arrival Monday-Saturday.



Ship to:
‍GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

Phone:
‍888-729-1206

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We are unable to accept blood samples from patients who have received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant. DNA from cultured fibroblasts is the required specimen type. GeneDx can provide a skin punch biopsy kit and can culture fibroblasts on site, as needed.

If the patient has received a blood transfusion, 2-4 weeks of wait time is required for some testing. Mitochondrial DNA (mtDNA) testing can be affected by almost all types of blood products but there is no wait time required to submit a buccal swab, frozen muscle, or frozen liver for mtDNA testing.

Complimentary blood kits are available for US and Canadian clients. To order kits, please visit our supplies page or email [email protected].

One EDTA (lavender top) tube containing 2-5 ml whole sterile blood. Several tests usually can be performed on one 3ml blood specimen. 3-5ml is the preferred volume for adults but 1-2ml is acceptable for infants.

Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. Name and 2nd identifier on the specimen label must match what is on the test order. If cord blood is being used, state so on both the label and the paperwork.

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.

Blood specimens will be rejected if hemolyzed or clotted.

Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. In hot weather a cool pack can be enclosed.

Ship to:
‍GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

Phone:
‍888-729-1206

DNA extracted from whole blood, buccal swabs, skin, cultured fibroblasts, fresh and frozen tissue, dried blood spots.

We are not able to accept DNA from (including but not limited to):

• Formalin-Fixed Paraffin-Embedded (FFPE) Tissue
• Bone
• Tumor
• Lymphatic malformations
• Vascular malformations
• Plasma
• Semen/sperm

Please note that DNA must be extracted in a CLIA-certified Laboratory OR a laboratory meeting equivalent requirements as determined by the CAP and/or the CMS.

5 μg (= 5,000 ng) DNA is sufficient for any one or two GeneDx tests, regardless of methodology, with exceptions mentioned below. If testing needs to be repeated for technical reasons or if there are an unusual number of positive findings to be confirmed, 5μg may not be sufficient.

DNA content should be determined by Qubit or other fluorometric method with a DNA-specific dye. If using absorbance or other methods, double the amount sent.

For International Clients: 10 μg (= 10,000 ng) of DNA is the required amount due to difficulty in obtaining additional/replacement specimens if needed.

For best results, DNA should be dissolved in pH 8.0 TE buffer with low EDTA (10 mM Tris, 0.1 mM EDTA). Excess EDTA can inhibit reactions and must be avoided.

The ideal specimen has a concentration of ≥50 ng/μl AND a volume of ≥100 μl. Specimens with concentrations over 250 ng/μl or volumes under 20 μl should be diluted before sending to avoid waste.

1.7 ml flip-cap microtube, 1.5 ml v-bottom screw cap tube, or 2.0 ml v-bottom skirted tube is preferred.

Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. Name and 2nd identifier on the specimen label must match what is on the test order. DNA concentration and volume must also be provided on the specimen label.

Ship DNA in sealed and protective packaging at ambient temperature. Frozen DNA is also acceptable, it can be thawed and shipped at ambient temperature.

Ship at ambient temperature for overnight delivery with arrival Monday – Saturday.

Ship to:
‍GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

Phone:
‍888-729-1206

We are unable to accept dried blood spots (DBS) from patients who have received an allogeneic (non-self donor) bone marrow transplant or stem cell transplant. DNA from cultured fibroblasts is the required specimen type. GeneDx can provide a punch biopsy kit and can culture fibroblasts on site, as needed.

For best results, please send 2-8 DBS per person (of 10mm diameter, completely filled). If your DBS does not fit this criteria, please call or email us to discuss.

Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. Name and 2nd identifier on the specimen label must match what is on the test order.

The blood on the DBS cards should dry at room temperature for at least 3 hours after collection.

Dried blood spots can not be accepted if the patient has had allogeneic bone marrow transplant.

GeneDx does not have a DBS kit. We can provide shipping materials, as needed. Ideal handling is to ship immediately, after drying, for overnight delivery with arrival Monday-Saturday.

Ship to:
‍GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

Phone:
‍888-729-1206

Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. The name and 2nd identifier on the specimen label must match what is on the test order. . If the tissue source is Product of Conception (POC) state this clearly on the label and state whether the tissue was fetal or placental in origin.

Complimentary prenatal kits are available for US and Canadian clients. The kits can be used for amniotic fluid, chorionic villi, or POC specimen collection and can be ordered through our website. If transport media is needed for the chorionic villi or POC specimen collection, please email [email protected] or [email protected] as the transport media is shipped separately.

Please note that the media is light sensitive; leave all contents inside the box and minimize light exposure to the media until use (e.g. minimize prolonged exposure to fluorescent light or direct sunlight).

All prenatal specimens should be shipped overnight at ambient temperature. Direct chorionic villi or POC specimens should be placed in transport media. GeneDx can provide transport media, as needed. Cultures must be topped off with sterile media immediately before shipping. Please contact GeneDx to discuss any frozen specimens to determine if they are acceptable. We do not accept any samples fixed in formalin.

Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. In hot weather a cool pack can be enclosed.

Ship to:
‍GeneDx, 207 Perry Parkway, Gaithersburg MD 20877

Phone:
‍888-729-1206

Skin Punch Biopsy Kits are available for US and Canadian clients. To order a kit, please email [email protected] or call us at 888-729-1206. Please note that the media is light sensitive; leave all contents inside the box and minimize light exposure to the media until use (e.g. minimize prolonged exposure to fluorescent light or direct sunlight). Kits include an expiration date, typically several weeks out from the date of shipment.

One or two 4mm skin punch biopsies. Biopsies may be collected from any site of healthy skin. One punch typically provides ample DNA for genetic testing; however, a second specimen increases the likelihood of successfully culturing. For mosaic skin disorders, be sure to biopsy an affected (lesional) area and always send two punches of 4-6 mm or excised skin of an equivalent area. Please note we do not accept affected skin samples for all testing at GeneDx, please contact us ahead of time to review.

Label with the patient name plus a second identifier such as date of birth, specimen ID or medical record number. Name and 2nd identifier on the specimen label must match what is on the test order.

Include sample processing instructions on your order. For example, if a skin punch biopsy is intended for culture or for direct extraction.

Skin biopsy specimens must be shipped at room temperature for overnight delivery to GeneDx the same day as the biopsy is performed. Note that specimens are accepted by the lab on Saturdays. For DIRECT DNA ISOLATION only, if shipping must be postponed, biopsies can be flash frozen and shipped frozen at a later time.

Published turn-around times do not apply for skin punch biopsy specimens due to the time needed to culture fibroblasts. In general cell culturing adds 2-3 weeks to published turn-around times.