Specimen Requirements & Shipping

Requirements: Collect 3 ml - 5 ml of whole blood in EDTA (purple top tube) or ACD (yellow top tube), minimum 1 ml for small infants.

Shipping: At room temperature or refrigerated, a blood specimen is stable for up to 8 days. Include a refrigerated gel pack in the shipping container. Fresh blood specimens are preferred. If frozen, a blood specimen is stable for up to 1 month before shipping. Frozen blood specimens should be shipped frozen (preferably on dry ice) overnight.

Requirements: Send in a screw cap tube at least 5 µg -10 µg of purified DNA at a concentration of at least 100 ng/uL, minimum 2 µg for limited specimens. Indicate concentration on tube label. For requests requiring more than one test, send an additional 5 µg DNA per test ordered when possible. For rapid tests, good DNA quality is of utmost importance.

Shipping: Specimens may be shipped at room temperature. Label the tube with the composition of the solute and DNA concentration along with the patient's name, date of birth, and/or ID number. We only accept genomic DNA for testing; we do not accept products of whole genome amplification reactions or other amplification reactions. DNA must be extracted from a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by CAP and/or CMS.

Requirements: Culture and send at least two, T25 flasks of confluent cells. For sequencing or gene-centric aCGH panels, two flasks are often sufficient; however, some panels may require additional flasks (dependent on size of genes, amount of Sanger sequencing required, etc.). Multiple test requests may also require additional flasks. Please contact us for details. We strongly recommend maintaining a back-up culture.

Fetal cell cultures are available at PreventionGenetics from direct amniotic fluid, chorionic villi, products of conception (POC), or other tissue via Test Code #995. Collect 10 ml - 20 ml of direct amniotic fluid or 5 mg - 10 mg of cleaned CVS tissue (~15-20 cleaned villi) or 2mm x 2mm x 2mm fresh tissue. CPT code 88235 for amniotic fluid/chorionic villi or 88233 for POC or tissue specimens.

Shipping: Send specimens overnight in an insulated, shatterproof container.

Requirements: Collect 2mm x 2mm x 2mm tissue.

• Testing on direct tissue: Flash freeze. Tissue should be sent frozen (preferably on dry ice).
• Tissue for cell culture: Send in sterile media or saline (not frozen). See Cell Cultures or Contact us for additional details.

Requirements: Oragene^TM or GeneFiX^TM Saliva Collection kit used according to manufacturer instructions. DNA from saliva specimens is invariably contaminated with microbial and food DNA, which can impact specimen quality and may result in delayed testing and/or the need for a second specimen.

Saliva collection instructions are available in 9 languages, including English. To request special instructions for patients, add a note in the Comments section of the kit order indicating which language is needed. Additional languages available include: Chinese, French, German, Mayotte (French), Portuguese, Spanish (Mexican), Spanish (Spain), Swedish

Additional instructions to help families collecting samples at home are included in each home saliva kit order.

Patients can also view an Isohelix How-To Video.

Shipping: Specimens may be shipped at room temperature.

Requirements: Send 5 or more completely filled spots, each 10 mm in diameter. If 5 spots are unavailable, send as many as possible, minimum 2. DBS cards should dry at room temperature for at least 3 hours after collection. DNA from DBS cards has inconsistent quantity and quality, which may result in delayed testing and/or the need for a second specimen.

Shipping: Send specimens at room temperature and after drying.

Requirements: Collect 10 ml -20 ml of direct amniotic fluid or 5 mg -10 mg of cleaned CVS tissue (~15-20 cleaned villi). A back-up culture is required for NextGen sequencing tests. We strongly recommend maintaining a back-up culture for any other testing on direct prenatal specimens. Fetal cell culturing is available (Test Code #995).

Shipping: Send specimens overnight in an insulated, shatterproof container. Direct AF/CVS, POC, or tissue specimens can be sent in saline or culture media at room temperature for culturing at PreventionGenetics.

Requirements: Collect 1-2 vials and flash freeze. Vials should be sent frozen (preferably on dry ice). Contact us for details.

Clinical testing kits with prepaid return shipping are available for U.S. and Canadian clients. Kits are provided to international clients without the return postage. Submit requests through our website or contact our Client Service Representatives at (715) 387-0484, ext. 0.

Please sign the Prenatal Healthcare Provider's Statement for ongoing pregnancies and contact us in advance regarding prenatal test requests. When possible, ship prenatal samples to arrive at PreventionGenetics no later than Thursday. Refer to our Prenatal Guidelines for information about prenatal testing.

For quality control purposes, the PreventionGenetics DNA Genotyping Panel is performed on all clinical specimens. Genotyping results are not included in test reports.

We accept Fresh Tissue and Blood. See specimen requirements above.

Please note, we do not accept:

• Paraffin Embedded Tissue
• Nails, Hair, Teeth, Urine, Bile, or Vitreous Humor (liquid from the eye)
• Specimens collected after embalming
• Specimens that have been put into a preservative after collection (e.g. formalin fixed)