GenPath logo in conjunction with oncology

Specimen Requirements


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.

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.

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.

Buccal swabs:

Volume: Follow enclosed directions.

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

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

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

Skin punch biopsy and DNA from cultured fibroblasts:

For patients who have had an allogeneic bone marrow transplant/stem cell transplant and who pursue genetic testing, DNA from cultured fibroblasts is the required sample type. For patients with clinically active hematological disease, DNA from culture fibroblasts may be recommended. To discuss with a board-certified genetic counselor email or call customer service at (800) 627-1479.

Specimen Size:  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.

Stability & Shipping: Skin biopsy specimens must be shipped at room temperature for overnight delivery the same day as the biopsy is performed. Note that samples are accepted by the laboratory on Saturdays.

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

©2023 GenPath, a division of BioReference Laboratories, an OPKO Health Inc. Company