Follow Steps
How to collect your genetic testing sample
Follow the steps below to collect your sample and complete your kit.
Choose your collection method
Buccal Cheek Swab
Watch how to collect your sample
Please watch the full video before you start collecting your samples.
Preparation
Do not drink anything, eat anything (including gum, mints, lozenges, or hard candies) or smoke for at least 30 minutes before collecting the sample.
Swab
Remove one oral swab from its sealed package without touching the sponge tip or removing from the tube. Do not touch the tip. Place the sponge on the upper inside of the left cheek in the space where the upper gums meet the cheek. Sweep (or drag) along this area in a back-and-forth motion at least 10 times. Repeat the sweeping motion at least 10 more times in the middle and lower sides of the left cheek.
Remember: Do not rub the teeth.
Shake
Hold the tube upright to prevent anything from spilling. Unscrew the blue cap and turn the cap upside down and insert the sponge into the tube with the solution. Close the cap tightly. Shake vigorously, up and down 10 times. If your kit has two swabs, repeat steps 2 and 3 using the second swab on the right cheek.
Label
Fill out the provided labels with the full name and date of birth of the person whose sample is contained in the tubes, as well as the date the sample was collected. Place the labels onto each of the tubes. If you’re collecting multiple samples from different patients, please complete all the steps for the first sample before proceeding to the next person.
Reminder: All tubes must be labeled. Unlabeled samples will not be processed.
Sample Information
Reminder: Every sample MUST be accompanied by a completed sample info card. Samples submitted without this card will not be processed.
Return
- To return your sample, place all labeled tubes and the absorbent sheet into the biohazard bag and seal it.
- Insert the completed test requisition form and/or the sample information card into the second pocket in the biohazard bag.
- Put the sealed biohazard bag into the GeneDx box and close it.
- Place the box inside the FedEx Pak, remove the adhesive strip and seal the FedEx Pak. Attach the FedEx label to the outside of the Pak.
- Drop off the FedEx Pak at a local FedEx location. You can find the nearest FedEx location to you by calling FedEx or visiting FedEx.com/locate.
- If you are not able to access a FedEx drop-off location, please contact GeneDx for help scheduling a pickup.
Important
Before sealing and shipping the completed kit, make sure to include:
- Samples labeled with name, date of birth, and date of collection (i.e. tube or both tubes). Unlabeled samples will not be processed.
- Completed sample info card.
Prenatal Amniotic Fluid
Collect Amniotic Fluid
Fill all three (3) 15 ml sterile conical tubes with at least 10 ml of amniotic fluid in each. A minimum of 30 ml of amniotic fluid is required. If insufficient sample is received, cells will need to be cultured, which will increase turnaround time.
A third conical tube (10 ml of amniotic fluid) is required for 2 or more tests.
Close
Place the lids back onto the conical tubes and close tightly. Please make sure the caps are screwed on evenly to avoid leaking or sample contamination. Wrap each tube cap tightly with parafilm to prevent leaking during transit.
Label
Fill out 3 of the provided labels with the name and date of birth of the person whose sample is contained in the tubes, as well as the date the sample was collected. Place the labels onto each of the conical tubes
Collect Blood Samples
Ensure all parental/relative samples are included:
- A maternal sample is required for all prenatal tests for maternal cell contamination (MCC) studies
- A paternal sample is required for exome/genome trio, and recommended for chromosomal microarray (CMA), and panel tests.
- A positive control relative sample is required for targeted variant testing
For each sample, collect 2–4 ml of whole blood using the provided lavender-top (EDTA) venipuncture tubes.
Gently invert each tube 4–5 times to mix additive with blood.
Proper and timely submission of all specimens is key. To ensure turnaround time is met, testing will be held for up to 3 days after receiving the fetal sample to receive any additional samples. We recommend sending all fetal and parental/relative samples together.
Label
Fill out the remaining provided labels with the full name and date of birth of the personwhose sample is contained in each tube, as well as the date each sample was collected. Place the labels onto each of the tubes. Reminder: All tubes must be labeled. Unlabeled samples will not be processed.
Sample Information
Every sample MUST be accompanied by a completed sample info card. Samples submitted without this card will not be processed.
Return
- To ship, place all labeled tubes into the foam sleeve. Then place the foam sleeve into the biohazard bag and seal it.
- Put the sealed biohazard bag into the GeneDx box and close it.
- Place the box inside the FedEx Pak, remove the adhesive strip, and seal the FedEx Pak. Attach the FedEx label to the outside of the Pak.
- Drop off the FedEx Pak at a local FedEx location.
- You can find the nearest FedEx location to you by calling FedEx or visitingFedEx.com/locate.
- If you are not able to access a FedEx drop-off location, please contact GeneDx for help scheduling a pickup.
Important
Before sealing and shipping the completed kit, make sure to include:
- Samples labeled with name, date of birth, and date of collection (i.e. tube or both tubes). Unlabeled samples will not be processed.
- Completed sample info card.
Mito Urine
Collection
Collect at least 30 ml of urine into a sterile, preservative-free urine cup (not provided). First morning urine is the preferred sample for this test, although random urine samples are also accepted.
Note: This sample will be rejected if it is contaminated with another substance (blood, stool, etc.).
Note for pediatric patients: Samples collected with urine collection bags are accepted if they are transferred to the provided 50 ml conical tube prior to shipment.
Fill
Pour urine sample into the provided 50 ml conical tube, ensuring that the sample is above the 30 ml line on the conical tube. Place the lid back onto the conical tube and close tightly. Please make sure the cap is screwed on evenly to avoid any leaking and sample contamination. Wrap each tube cap tightly with parafilm to prevent leaking during transit.
Label
Fill out 3 of the provided labels with the name and date of birth of the person whose sample is contained in the tubes, as well as the date the sample was collected. Place the labels onto each of the conical tubes
Sample Information
Every sample MUST be accompanied by a completed sample info card.
Reminder: Results for samples submitted without this card will not be processed.
Return
- To return your sample, place the labeled tube and the absorbent sheet into the biohazard bag and seal it. Samples can be refrigerated for up to 7 days before shipping. DO NOT FREEZE.
- Insert the completed sample info card into the second pocket in the biohazard bag.
- Put the sealed biohazard bag into the GeneDx box and close it.
- Place the box inside the FedEx Pak, remove the adhesive strip and seal the FedEx Pak. Attach the FedEx label to the outside of the Pak.
- Drop off the FedEx Pak at a local FedEx location.
- You can find the nearest FedEx location to you by calling FedEx or visiting FedEx.com/locate.
- If you are not able to access a FedEx drop-off location, please contact GeneDx for help scheduling a pickup.
Important
Before sealing and shipping the completed kit, make sure to include:
- Samples labeled with name, date of birth, and date of collection (i.e. tube or both tubes). Unlabeled samples will not be processed.
- Completed sample info card.
Trio Rapid Blood
Collection
Perform venipuncture using the enclosed tubes. Fill each tube with 2–4 mL of whole blood.
Note: Collect two blood tubes per person.
Mix
Gently invert each tube 4–5 times to mix the additive with the blood.
Repeat Steps 1 and 2 for each family member being tested, collecting two blood tubesper person.
Label
Fill out the provided labels with:
- Patient full name
- Date of birth
- Date the sample was collected
- Place the labels onto each tube.
Reminder: Samples submitted without labels will not be processed.
Sample Information
A completed sample information card must be included for each individual submitting a sample.
This means:
- One card for the patient
- One card for each family member submitting a sample
Reminder: Results for samples submitted without this card will not be processed.
Return
- Place all labeled tubes into the foam sleeve.
- Place the foam sleeve into the biohazard bag and seal it.
- Insert the completed sample information cards into the second pocket of the biohazard bag.
- Place the sealed biohazard bag into the GeneDx box and close it.
- Place the box inside the FedEx Pak, remove the adhesive strip, and seal the pak.
- Attach the FedEx label to the outside of the Pak.
- Drop off at a local FedEx location
- Find locations at FedEx.com/locate
If you are not able to access a FedEx drop-off location, please contact GeneDx for help scheduling a pickup.
Important
Before sealing and shipping the completed kit, make sure to include:
- Samples are labeled with name, date of birth, and date of collection(2 tubes per individual; 6 tubes total for a trio)Unlabeled samples will not be processed.
- Completed sample info card.
Skin Punch Biopsy
Important
The media is light sensitive; please leave all contents inside the box and minimize lightexposure to the media until use (e.g. prolonged exposure to fluorescent light or direct sun light). The media does not need to be refrigerated.
Once a tissue specimen is collected, if it is not being shipped immediately, place it in the refrigerator until shipment.
Your kit includes the following:
- FedEx Clinical Pak with UN3373 label
- FedEx return shipping label (addressed to 7331 Calhoun Place, Rockville, MD)
- Instruction brochure
- Biohazard bag with absorbent sheet
- One 4”x4” sheet of Parafilm
- GeneDx specimen label sheet with 5 labels
- GeneDx sample information card
- One 15 mL conical tube containing 10 mL of BenchStable RPMI media
* Test requisition form not included
Collection
One or two 4 mm skin punch biopsies should be collected. The tissue should be placed into tube media and submerged.
Place the lid(s) back on the tube(s) and close tightly. Please ensure that each cap is screwed on evenly and completely to avoid any leaking. Wrap each tube cap tightly with parafilm to prevent leaking during transit.
Samples in the media should be sent at room temperature the same day as the collection.
Label
Fill out the remaining provided labels with the full name and date of birth of the person whose sample is contained in each tube, as well as the date each sample was collected. Place the labels onto each of the tubes.
Reminder: All tubes must be labeled. Unlabeled samples will not be processed.
Sample Information
Reminder: Every sample MUST be accompanied by a completed sample info card. Samples submitted without this card will not be processed. Please indicate the tissue type on the sample information card.
Return
- Place the tube(s) into the biohazard bag and seal.
- There is an absorbent blotter inside of the biohazard bag in case of leakage—please do not remove it.
- Insert the completed sample information card into the specimen collection kit along with the sealed biohazard bag containing the tube. Close the box.
- Place the box inside the FedEx Pak, remove the adhesive strip and seal the FedEx Pak. Attach the FedEx label to the outside of the Pak.
- Drop off the FedEx Pak at a local FedEx location. You can find the nearest FedEx location to you by calling FedEx or visiting FedEx.com/locate.
- If you are not able to access a FedEx drop-off location, please contact GeneDx for help scheduling a pickup.
Important
Before sealing and shipping the completed kit, make sure to include:
- Sample labeled with name, date of birth, and date of collection. Unlabeled samples will not be processed.
- Completed sample info card.
Venipuncture (Blood)
Collection
Perform venipuncture using enclosed tubes.
Fill each tube with 2–4 ml of whole blood.
Mix
Gently invert each tube 4–5 times to mix the additive with blood.
Label
Fill out the provided labels with the full name and date of birth of the person whose sample is contained in the tubes, as well as the date each sample was collected. Place the labels onto each of the tubes.
Reminder: Samples submitted without labels will not be processed.
Sample Information
Every sample MUST be accompanied by a completed sample info card.
Reminder: Results for samples submitted without this card will not be processed.
Return
- Place all labeled tubes into the foam sleeve.
- Place the foam sleeve into the biohazard bag and seal it.
- Insert the completed sample information cards into the second pocket of the biohazard bag.
- Place the sealed biohazard bag into the GeneDx box and close it.
- Place the box inside the FedEx Pak, remove the adhesive strip, and seal the pak.
- Attach the FedEx label to the outside of the Pak.
Drop off the FedEx Pak at a local FedEx location. You can find the nearest FedEx location to you by calling FedEx or visiting FedEx.com/locate.
If you are not able to access a FedEx drop-off location, please contact GeneDx for help scheduling a pickup.
Important
Before sealing and shipping the completed kit, make sure to include:
- Samples labeled with name, date of birth, and date of collection (2 tubes/individual). Unlabeled samples will not be processed.
- Completed sample info card.
Helpful resources
Questions about genetic testing?
Learn more about what genetic testing means and what to expect. If you have any questions, our Patient Counseling Team is here to help you navigate them.
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