Specimen Requirements

Our specimen requirements are listed in categories below. Please follow these directions closely when preparing to submit your specimen(s) to ensure successful testing and avoid delays.

Please label each specimen and Test Requisition Form with at least 2 unique identifiers specific to the patient (full name and date of birth/medical record number), and collection date. Do not transfer samples to other containers. If patient is deceased, please call Ambry at +1 949-900-5500 to discuss before sample submission.

Container

EDTA tube (purple top) or PAXgene® DNA tube (blue top) preferred. Citric acetate tube (yellow top) or sodium fluoride tube (grey top) are also accepted.

Amount

Adult: 3-5cc

Pediatric: 2cc minimum

Fetal/Cord blood: 2cc minimum

Exceptions*

Next generation sequencing panels and clinical exome sequencing require 6-10cc (adult), 5cc (pediatric) minimum

Chromosomal microarray for newborns: SNP Array requires 1cc minimum

Blood samples not accepted for patients that have undergone an allogenic transplant (e.g. bone marrow or peripheral stem cell) OR that have a history of chronic lymphocytic leukemia (CLL). More details listed below.*

Special Collection Notes

Transfusion patients: Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing.

Chemotherapy patients: DNA quality may be affected if patient has received chemotherapy within the last 120 days. Clients will be contacted to provide additional specimen if DNA quality is insufficient.

Storage

Room temperature at 15-30 °C (short-term). Refrigerated at 2-8 °C (long-term). Frozen: -20 °C, avoid freeze/thaw cycles. Freezing may impact specimen quality.

Stability

When stored per above, stable for 7 days, refrigerated. Stability may be affected if stored at room temperature for more than 3 days. Please contact Ambry if your sample is more than 7 days old.

Shipping

For whole blood, ship ambient for 2-day delivery (preferred) using the Ambry Sample Submission Kit, or similar. For fetal/cord blood, please call ahead and ship ambient for next-day delivery (required). Please do not ship to arrive on a holiday.

Please contact Ambry at +1 949-900-5500 before sending fetal/cord blood specimens.

Maternal cell contamination (MCC) analysis required for all fetal/cord blood tests. Please send a maternal sample, using a separate requisition. An additional charge applies. We recommend sending parental blood samples for mutation confirmation, if previous parental testing was done elsewhere. Chromosomal microarray analysis is not available on prenatal samples.


* Blood/saliva from patients with a history of allogenic bone marrow or stem cell transplant should not be used for genetic testing. For these patients, an alternative specimen (e.g. cultured fibroblasts) is required. Testing on blood/saliva from patients with active hematological disease is not recommended. An alternative specimen (e.g. cultured fibroblasts) is recommended.

Note

Saliva samples not accepted for every test – please see below for exceptions

Container

  • 1 Oragene (OGD-510) self-collection container for Oncology, Rare Disease and Cardiology tests.
  • 1 Oragene (OGD-500) self-collection container for Carrier Screening.
  • 2 Oragene (ORG-575) assisted collection containers for all pediatric testing kits.

Amount

Oragene OGD-510: 1mL of freshly collected saliva in container per kit's specific instructions. Fill up to black line with 1mL of saliva and close lid. Once lid is closed, it automatically adds 1mL of buffer for a total volume of 2mL.

Oragene OGD-500: 2mL of freshly collected saliva in container per kit's specific instructions. Fill up to black line with 2mL of saliva and close lid. Once lid is closed, it automatically adds 2mL of buffer for a total volume of 4mL.

Special Collection Notes

Transfusion patients: Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing.

Chemotherapy patients: DNA quality may be affected if patient has received chemotherapy within the last 120 days. Clients will be contacted to provide additional specimen if DNA quality is insufficient.

Storage

Pre-collection: Store kits at room temperature for up to 30 months.

Post-collection: Store kits at room temperature for up to 12 months.

Stability

See Storage.

Shipping

Room temperature for two-day delivery (preferred using Ambry Sample Submission Kit or similar. Samples may be exposed to temperatures between -20°C to 50°C during collection and transport).


Blood/saliva from patients with a history of allogenic bone marrow or stem cell transplant should not be used for genetic testing. For these patients, an alternative specimen (e.g. cultured fibroblasts) is required. Testing on blood/saliva from patients with active hematological disease is not recommended. An alternative specimen (e.g. cultured fibroblasts) is recommended.

Container

ORACollect Dx Buccal kit

Amount

Two completed swabs, collected as instructed on kit.

Availability

Available for all Neuropathy tests, Cardiology tests, Neurology panels, ExomeNext tests, Fragile X and chromosomal microarray (SNP array) tests, Specific Site Analysis tests.

Special Collection Notes

Transfusion patients: Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing.

Chemotherapy patients: DNA quality may be affected if patient has received chemotherapy within the last 120 days. Clients will be contacted to provide additional specimen if DNA quality is insufficient.

Collection Instructions: https://www.dnagenotek.com/US/support/collection-instructions/oracollect-dx/OCD-100.html

Storage

Room temperature at 15-30 °C

Stability

When stored per above, stable for 30 days. Please contact Ambry if your sample is more than 30 days old.

Shipping

Ship ambient for 2-day delivery (preferred) using the Ambry Sample Submission Kit or similar. Please do not ship to arrive on a holiday.


Buccal swab samples from patients with a history of allogenic bone marrow or stem cell transplant should not be used for genetic testing. For these patients, an alternative specimen (e.g. cultured fibroblasts) is required. Testing on buccal swab samples from patients with active hematological disease is not recommended. An alternative specimen (e.g. cultured fibroblasts) is recommended.

Container

Sterile plastic tube

Amount

5µg of DNA in low EDTA TE buffer (10mM tris-CL pH 8.0, 0.1mM EDTA); preferred 100µl at ~50ng/µl concentration for multi-gene/NGS panels. DNA OD 260/280 ratio (preferred 1.7-1.9). Please send agarose picture with high molecular weight genomic DNA, if available. Single Site Analysis minimum 1-2µg of DNA (~100 ng/µl concentration).

Exceptions

Single Site Analysis requires minimum 1-2µg of DNA (~100 ng/µl concentration)

Special Collection Notes

DNA sample must come from a CLIA-certified laboratory or a laboratory meeting equivalent requirements as determined by CAP and/or CMS.

DNA should not be submitted if it has undergone multiple freeze/thaw cycles

Transfusion patients: Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw for testing.

Chemotherapy patients: DNA quality may be affected if patient has received chemotherapy within the last 120 days. Clients will be contacted to provide additional specimen if DNA quality is insufficient.

Storage

Room temperature at 15-30°C (immediate). Refrigerated at 2-8°C (short-term). Frozen at -30°C (long-term).

Stability

When stored per above, stable for 3-4 days at room temperature. Stable for at least 1 year, refrigerated. Stable indefinitely, frozen.

Shipping

Preferred: Ship frozen or on cold pack for next day delivery using Ambry Sample Submission Kit or similar.
Alternative: Ambient temperature for arrival at lab within 48 hours, using Ambry Sample Submission Kit or similar.


DNA sourced from blood/saliva of patients with a history of allogenic bone marrow or stem cell transplant should not be used for genetic testing. For these patients, an alternative specimen (e.g. cultured fibroblasts) is required. Testing on blood/saliva from patients with active hematological disease is not recommended. An alternative specimen (e.g. cultured fibroblasts) is recommended.

Note

We do not accept prenatal or Product of Conception (POC) samples for all tests. These are accepted on a case-by-case basis. Please complete this form or contact Ambry at +1 949-900-5500 to discuss your situation.

We accept cultured cells from amniotic fluid, chorionic villi sampling (CVS), products of conception, and direct chorionic villi. Uncultured amniocytes (e.g. direct amniocentesis) are not accepted. SNP Array and Fragile X (FMR1) testing cannot be performed on prenatal specimens. Ambry does not provide cell culturing services.

Container

Direct chorionic villi (CVS): Ship sample in sterile plastic tube or flask with sterile transport media. If tissue culture media is not available, ship in sterile saline. Do not freeze.

Cultured cells (CVS, amniocytes, products of conception): Ship cultures in two sterile T25 cell flasks at 80% confluence, in sterile culture media. Do not freeze.

Amount

Direct Chorionic Villi (CVS): 10mg cleaned villi
Cultured Cells: Two (2) T25 cell flasks or suitable alternative at 80% confluence.
Culturing laboratory should maintain back-up cell culture for direct CVS and cultured cells.

Storage

Store direct villi at room temperature. DO NOT FREEZE.
Store cell cultures in tissue culture incubator. DO NOT FREEZE.

Stability

When stored per above:
Direct villi should arrive in lab within 48 hours of collection.
Cultured samples should arrive in lab within 48 hours of completion.

Shipping

Samples should be shipped ambient for next-day delivery to arrive Monday-Friday (required), using the Ambry Sample Submission Kit, or similar. Please do not ship to arrive on a holiday.

Additional Requirements: Maternal cell contamination (MCC) analysis is required for all fetal/cord blood tests. Please send a maternal sample (blood or saliva), using a separate requisition. An additional charge applies. Positive control specimens, where applicable, are recommended to ensure assay performance for all prenatal requests.

Please complete this form or contact Ambry +1 949-900-5500 before sending fetal/cultured cell specimens.

Note

We accept cells cultured from skin punch biopsy (cultured fibroblasts) for testing as an alternative specimen.

Tissue culturing services are available through Baylor Genetics for an additional charge. See Ambry Genetics' Tissue Culturing Requisition Form for more information and instructions. Please note: tissue culturing services are not available for prenatal specimens.

Container

Two (2) sterile T25 cell flasks at 80% confluence, or suitable alternative, in sterile culture media. Culturing laboratory should maintain back-up cell culture.

Amount

For cultured cells, two T25 cell flasks or suitable alternative, at 80% confluence.

Storage

Store cell cultures in tissue culture incubator. DO NOT FREEZE.

Stability

When stored per above, stable up to 72 hours, refrigerated

Shipping

Samples should be shipped ambient for next-day delivery to arrive Monday-Friday (required), using the Ambry Sample Submission Kit, or similar. Please do not ship to arrive on a holiday.

Refer to the "Prenatal" specimen section for information about cultured prenatal specimens.

Note

Blood spots not accepted for all tests – please call for availability. For us to perform proper DNA extraction, please submit blood spots completely filled on the card. Multiple filled spots are preferable.

Container

Guthrie blood spot cards or Schleicher+Schuell (S&S) 903 specimen collection paper

Amount

Minimum one complete spot, approximately 0.5 inches in diameter

Storage

In sterile bag at room temperature (15-30°C) for short-term storage; frozen in sterile bag at 30°C for long-term storage

Stability

When stored per above, stable indefinitely

Shipping

At room temperature, in sterile bag, for 2-day delivery (preferred) using the Ambry Sample Submission Kit, or similar

Container

In order of preference: 1) EDTA tube (purple top) or 2) Citric acetate tube (yellow top)

Amount

Adult: 3-5cc

Pediatric: 2cc minimum

Storage

Refrigerated 2-8°C. DO NOT FREEZE.

Stability

When stored per above, stable for 7 days, refrigerated. Stability may be affected if stored at room temperature for more than 3 days. Please contact Ambry if your sample is more than 7 days old.

Shipping

Room temperature for two-day delivery (preferred) in Ambry Sample Submission kit or similar


Bone marrow from patients with a history of allogenic bone marrow or stem cell transplant should not be used for genetic testing. For these patients, an alternative specimen (e.g. cultured fibroblasts) is required. Testing on bone marrow from patients with active hematological disease is not recommended. An alternative specimen (e.g. cultured fibroblasts) is recommended.

Types

Pathology specimens (e.g. liver, muscle, heart), direct chorionic villi (CVS)

Container

Sterile plastic tube or flask filled with sterile transport medium

Amounts

Fresh tissue: CVS: 10mg cleaned villi; Pathology specimens: Minimum 20mg – prefer 50mg (minimum size 0.5cm cube, prefer 1-2cm cube)

Frozen tissue: Minimum size is 0.5cm cube, Prefer 1-2cm cube

Storage

Fresh tissue: Sterile plastic tube or flask with sterile transport media (e.g. tissue culture media)

Frozen tissue: At -80°C and ship on dry ice overnight delivery to arrive Monday-Friday

Stability

Fresh tissue: Specimens should arrive in the lab within 48 hours of collection. Shipping on a cold pack in Styrofoam may be considered to minimize the risk for extreme temperature exposure. Specimens should not be exposed to temperatures less than -20°C or greater than 30°C.

Frozen tissue: Shipped on dry ice overnight to arrive Monday-Friday. Frozen tissue can be used at any point for testing; however, specimens that have gone through freeze/thaw cycles are not acceptable. Specimens should be maintained at minimum -20°C during packaging and shipping.

Shipping

Fresh tissue: Room temperature and shipped for overnight delivery (preferred using Ambry Sample Submission Kit or similar). Specimens should arrive at the lab within 48 hours of collection. Delivery Monday-Friday is preferred.

Frozen tissue: Flash freeze and ship frozen on dry ice with overnight delivery to arrive Monday-Friday

Preferred Samples

Blood

  • CONTAINER: Purple top (EDTA) tube (preferred). Yellow top (citric acetate) or grey top (potassium oxalate/sodium fluoride) tube also accepted.
  • AMOUNT: Adult: 3-5cc whole blood; Pediatric: 2cc minimum
  • STORAGE: Room temperature at 15-30°C (short-term). Refrigerated at 2-8°C (long-term). DO NOT FREEZE.
  • STABILITY: When stored per above, stable for 7 days, refrigerated. Stability may be affected if stored at room temperature for more than 3 days. Please contact Ambry at +1 949-900-5500 if your sample is more than 7 days old.
  • SHIPPING: Ship as stored for 2-day delivery using the Ambry Sample Submission Kit, or similar. Please call ahead and ship to arrive on Monday-Friday.
  • POSSIBLE ISSUE: Thawing can degrade and compromise the DNA (and results) obtained
  • For general specimen requirements, please click here

Buccal (Cheek) Swabs

  • CONTAINER: ORACollect Dx Buccal kit. Collect TWO kits.
  • AMOUNT: All completed swabs, collected as instructed on kits.
  • STORAGE: Room temperature 15-30°C
  • STABILITY: When stored per above, stable for 30 days. Please contact Ambry if your sample is more than 30 days old.
  • SHIPPING: Ship ambient for 2-day delivery (preferred) using the Ambry Sample Submission Kit or similar. Please call ahead at +1 949-900-5500 and ship to arrive on Monday-Friday.

DNA

  • CONTAINER: Sterile plastic tube
  • AMOUNT: 5µg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 100µl at ~50ng/µl concentration for multi-gene/NGS panels. DNA OD 260/280 ratio (preferred 1.7-1.9). Please send agarose picture with high molecular weight genomic DNA, if available.
  • STORAGE: Room temperature at 15-30°C (immediate). Refrigerated at 2-8°C (short-term). Frozen at -30°C (long-term). DO NOT THAW, IF FROZEN.
  • STABILITY: When stored per above, stable for 3-4 days at room temperature. Stable for at least 1 year, refrigerated. Stable indefinitely, frozen. Specimens that have gone through freeze/thaw cycles are not acceptable.
  • SHIPPING: Ship as stored for next-day delivery using Ambry Sample Submission kit, or similar. Please call ahead at +1 949-900-5500 and ship to arrive on Monday-Friday.
  • POSSIBLE ISSUE: Thawing can degrade and compromise the DNA (and results obtained)

Frozen Tissue

  • Preferred tissue types: cardiac, liver, spleen, kidney, other. Brain is not accepted.
  • CONTAINER: Sterile plastic tube or flask filled with sterile transport medium
  • AMOUNT: Minimum size is 0.5cm cube; prefer 1-2cm cube
  • STORAGE: Frozen at -80°C. DO NOT THAW.
  • STABILITY: When stored per above, frozen tissue can be used at any point for testing; however, specimens that have gone through freeze/thaw cycles are not acceptable.
  • SHIPPING: Ship as stored for next-day delivery using Ambry Sample Submission Kit, or similar. Please call ahead at +1 949-900-5500 and ship to arrive on Monday-Friday.
  • POSSIBLE ISSUES: Amount of DNA is dependent on type of tissue, amount, and mode of storage. Thawing can degrade and compromise the DNA (and results) obtained.

Bone Marrow

  • CONTAINER: In order of preference: 1) EDTA tube (purple top) or 2) Citric acetate tube (yellow top)
  • AMOUNT: Adult: 3-5cc; Pediatric: 2cc minimum
  • STORAGE: Refrigerated 2-8°C. DO NOT FREEZE.
  • STABILITY: When stored per above, stable for 7 days, refrigerated. Stability may be affected if stored at room temperature for more than 3 days. Please contact Ambry at +1 949-900-5500 if your sample is more than 7 days old.
  • SHIPPING: Room temperature for two-day delivery (preferred) in Ambry Sample Submission kit or similar. Please call ahead and ship to arrive on Monday-Friday.

Cultured Cells

  • We cannot culture cells at Ambry.
  • CONTAINER: Sterile T25 cell flasks with cultured cells in sterile culture media or suitable alternative
  • AMOUNT: 2 sterile T25 cell flasks at 80% confluence. Culturing laboratory should maintain back-up cell culture.
  • STORAGE: In tissue culture incubator. DO NOT FREEZE.
  • STABILITY: When stored per above, stable up to 72 hours, refrigerated
  • SHIPPING: Ship as stored for next-day delivery using Ambry Sample Submission Kit, or similar. Please call ahead at +1 949-900-5500 and ship to arrive on Monday-Friday.

Acceptable Samples

Frozen Blood

  • CONTAINER: Purple top (EDTA) tube (preferred). Yellow top (citric acetate) or grey top (potassium oxalate/sodium fluoride) tube also accepted.
  • AMOUNT: Adult: 3-5cc whole blood; Pediatric: 2cc minimum. Do not fill tube, as it may break when frozen.
  • STORAGE: Frozen at -80°C. DO NOT THAW.
  • STABILITY: When stored per above, frozen blood can be used at any point for testing; however, specimens that have gone through freeze/thaw cycles are not acceptable.
  • SHIPPING: Ship as stored for next-day delivery using Ambry Sample Submission Kit, or similar. Please call ahead at +1 949-900-5500 and ship to arrive on Monday-Friday.
  • POSSIBLE ISSUE: Thawing can degrade and compromise the DNA (and results) obtained

Least Preferred Samples

Blood Spots

  • **Blood spots not accepted for all tests – please call for availability
  • CONTAINER: Guthrie blood spot cards or Schleicher+Schuell (S&S) 903 specimen collection paper. Please call at +1 949-900-5500 to discuss alternative collection methods.
  • AMOUNT: Minimum one complete spot, approximately 0.5 inches in diameter. 2-3 complete spots preferred.
  • STORAGE: In sterile bag at room temperature (15-30°C) for short-term storage; frozen in sterile bag at -30°C for long-term storage. DO NOT THAW, IF FROZEN.
  • STABILITY: When stored per above, stable indefinitely. Specimens that have gone through freeze/thaw cycles are not acceptable
  • SHIPPING: Ship as stored for 2-day or next-day delivery using the Ambry Sample Submission Kit, or similar. Please call ahead and ship to arrive on a Monday-Friday.
  • Possible Issues:
    • Blood spot DNA samples may be limited and only provide enough DNA for ONE panel test
    • Older blood spots may provide less DNA than more recent blood spots
    • Deletion/duplication analysis may be attempted on blood spots

Samples Not Accepted

We are unable to accept the following for postmortem genetic testing:

  • Formalin-Fixed, Paraffin-Embedded (FFPE) tissue blocks and slides
  • Tumor tissue blocks and slides
  • Samples collected in red top (serum with clotting additive) collection tubes
  • Brain tissue
  • Hair samples
  • Ocular fluid

Additional Resources and Downloads

Container

Tests including +RNAinsight require 1 PAXgene® blood tube for RNA analysis in addition to the purple top (EDTA) tube required for DNA testing.

Amount

Draw a minimum of 2.5 mL of blood in the PAXgene tube.

Special Collection Notes

Sample Collection Instructions: Position PAXgene tube vertically below the collection site. Ensure tube remains vertical, drawing a minimum of 2.5 mL of blood. Use butterfly needle to prevent backflow.

PAXgene Tube Must be Drawn Last: Draw EDTA blood tube first, then draw PAXgene blood tube last. If only a PAXgene tube is to be collected, FIRST collect a small amount of blood in a discard tube, THEN collect blood into the PAXgene tube.

Specimen Processing: Gently INVERT TUBE 8-10 TIMES IMMEDIATELY after draw, before sitting and/or shipping.

Storage

Maintain samples at room temperature and ship on same day.

Stability

Note that PAXgene tubes sitting for >5 days at room temperature may have a higher risk of failure.

Shipping

Ship PAXgene tube (RNA analysis) with EDTA tube (DNA analysis) at room temperature on the same day as collection using the Ambry Sample Submission Kit. Note that samples are received Monday through Saturday.

For more detailed information, visit ambrygen.com/PAXgene

Container

Tiger-top Streck Cell-Free DNA BCT® blood tube

Amounts

10mL blood

Special Collection Notes

Collect specimen by venipuncture. For best results, a 21G or 22G needle is advised. Slower fill times may be observed when using a smaller gauge needle.

When using a winged (butterfly) collection set for venipuncture and the Streck Cell-Free DNA BCT is the first tube drawn, a non-additive or EDTA discard tube should be partially drawn first to eliminate air or "dead space" from the tubing.

Prevention of Backflow - Since Cell-Free DNA BCT contains chemical additives, it is important to avoid possible backflow from the tube. To guard against backflow, observe the following precautions:

  • Keep patient’s arm in the downward position during the collection procedure.
  • Hold the tube with the stopper in the uppermost position so that the tube contents do not touch the stopper or the end of the needle during sample collection.
  • Release tourniquet once blood starts to flow in the tube, or within 2 minutes of application.

For a video demonstration, visit streck.com/mixing.

Storage

Room temperature at 18°C to 25°C. Do not refrigerate or freeze.

Stability

Whole blood containing Cell-Free DNA BCT should be stored at 18°C to 25°C for up to 7 days total, including shipping.

Shipping

For whole blood, ship ambient on day of collection for 2-day delivery (preferred) using the Ambry Sample Submission Kit, or similar. Sample must arrive within 5 days after collection. Please do not ship to arrive on a holiday.

Container

1 EDTA (purple top) whole blood tube OR 1 Oragene® (OGD-500) saliva collection container

Amount

4mL whole blood OR 2mL of saliva.

Special Collection Notes

Collect specimen by venipuncture. Any BD Vacutainer® Needle Holders of the standard size may be used with 13 or 16 mm diameter tubes.

When using a winged blood collection set for venipuncture and a coagulation (citrate) tube is the first specimen tube to be drawn, a discard tube should be used prior to the first specimen collection. The discard tube must be used to fill the blood collection set tubing's "dead space" with blood. The discard tube does not need to be filled completely. This step will ensure maintenance of the proper blood-additive-ratio of the specimen. The discard tube should be a non-additive or coagulation tube.

Storage

Store samples at room temperature 15-30 °C (59-86 °F). Ship sample on day of collection.

Stability

Whole blood should be stored at 15-30 °C (59-86 °F) for up to 7 days total, including shipping.

Saliva should be stored at 15-30 °C (59-86 °F) for up to 12 months, including shipping.

Shipping

Ship ambient on day of collection for 2-day delivery (preferred) using the Ambry Sample Submission Kit, or similar. Sample must arrive within 7 days after collection. Please do not ship to arrive on a holiday.

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