Specimen Requirements & Shipping

See individual test descriptions for accepted specimens. Please contact us with additional specimen requirement questions.

Label all specimen containers with the patient's name, date of birth, and/or ID number. At least two identifiers should be listed on specimen containers. Specimen deliveries are accepted Monday-Saturday for all specimen types. However, urgent and/or sensitive specimens, such as cell cultures, direct amniotic fluid, or direct chorionic villi, are preferred to arrive Monday-Thursday. Urgent/sensitive specimens shipped on Thursday should be marked for overnight delivery; those sent Friday should be marked for overnight and Saturday delivery. Contact us to make arrangements. Holiday schedules will be posted on our website at least one week prior to major holidays.

Whole Blood

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. Heparin (green top tube) is strongly discouraged.

Shipping: DO NOT FREEZE. During hot weather, include a frozen ice pack in the shipping container. Place a paper towel or other thin material between the ice pack and the blood tube. In cold weather include an unfrozen ice pack in the shipping container as insulation. At room temperature, a blood specimen is stable for up to 48 hours. If refrigerated, a blood specimen is stable for up to one week.

DNA

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.

Cell Cultures

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.

Fresh Tissue

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.

Saliva

Requirements: OrageneTM or GeneFiXTM 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.

Buccal Swab (OCD-100 Preferred)

Requirements: OCD-100 Buccal Swab used according to manufacturer instructions. Buccal swabs are most appropriate for targeted, known variant testing. DNA from buccal 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.

Shipping: Specimens may be shipped at room temperature.

Dried Blood Spots (DBS)

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.

Direct Amniotic Fluid/Chorionic Villi/POC

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. If there is no indication a back-up culture is set-up elsewhere, we will start one at PreventionGenetics. 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.

Semen

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

Testing Kits

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.

Prenatal Testing

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.

DNA Genotyping Panel

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

DNA Banking

DNA Banking has a reduced price of $98 for patients if clinical testing is also being performed at PreventionGenetics. Visit our website at www.PreventionGenetics.com/pgdnabank for more information. For questions about PGDNABanking, contact us at (715) 387-0484, ext. 151, or email dnabanking@preventiongenetics.com.