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.

View details about tumor genetic testing, including specimen requirements and shipment instructions.

Container

Purple top (EDTA) tube (preferred). Yellow top (citric acetate) or grey top (potassium oxalate/sodium fluoride) tube 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). 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

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.


* Patients with a history of active/recent hematological disease, (e.g. leukemia, lymphoma, or myelodysplastic syndrome) will be subject to additional review prior to accessioning. Blood specimens in patients with hematological disease will not be accepted in some cases, including all patients with a history of CLL. For these cases and those who have undergone allogenic transplant (e.g. bone marrow or peripheral stem cell transplant), cultured fibroblasts are preferred, though fresh/fresh frozen normal tissue (no fixatives) may be accepted in some cases. Please refer to “Cultured Cell” section (see tab above) for those specimen requirements. If you are sending fresh/fresh frozen normal tissue samples, please call Ambry to discuss before sample submission.

Note

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

Container

1 Oragene self-collection container. 2 Containers are required for all pediatric saliva testing kits and adults having ExomeNext for family member analysis.

Amount

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

Exceptions

Saliva samples (collected by any method) are still not accepted for: proband ExomeNext/ExomeNext-Rapid, CSTB dodecamer expansion analysis, PMEFirst, PMENext, karyotype, and parental FISH.

Saliva samples not accepted for patients that have undergone an allogenic transplant (e.g. bone marrow or peripheral stem cell) or patients that have a history of chronic lymphocytic leukemia (CLL). Patients with a history of active/recent hematological disease, (e.g. other forms of leukemia, lymphoma, or myelodysplastic syndrome) will be subject to additional review prior to accessioning. Saliva specimens in patients with hematological disease may not be accepted in some cases. For these cases and those who have undergone allogenic transplant, cultured fibroblasts are preferred, though fresh/fresh frozen normal tissue (no fixatives) may be accepted in some cases. Please refer to “Cultured Cells” section (see tab above) for those specimen requirements. If you are sending fresh/fresh frozen normal tissue samples, please call Ambry to discuss before sample submission.

Storage

In sterile bag, room temperature at 15-30°C

Stability

When stored per above, stable up to 1 year

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).

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.

Exceptions

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

Special Collection Notes

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

Shipped frozen on ice/dry ice (or with cold pack, if not available) for next-day delivery (preferred) using Ambry Sample Submission kit, or similar

Note

We do not accept prenatal or POC samples for all tests. These are accepted on a case-by-case basis. Please 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 fibroblasts. (We also accept direct CVS tissue; see “Solid Tissue ” tab above for details). Tissue culturing services are available through Genesis Laboratories for an additional charge.

Container

Cultured cells (CVS, amniocytes, products of conception, fibroblasts) in two sterile T25 cell flasks at 80% confluence, or suitable alternative in sterile culture media. Please call to discuss case prior to shipping. Culturing laboratory should maintain back-up cell culture.

Amount

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

Storage

Cell cultures in tissue culture incubator. DO NOT FREEZE.

Stability

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

Shipping

Please call ahead when sending prenatal samples. Ship 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.

Please contact Ambry +1 949-900-5500 before sending fetal/cultured cell 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.

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

Exceptions

Patients with a history of active/recent hematological disease, (e.g. leukemia, lymphoma, or myelodysplastic syndrome) will be subject to additional review prior to accessioning. For these cases and those who have undergone allogenic transplant, cultured fibroblasts are preferred, though fresh/fresh frozen normal tissue (no fixatives) may be accepted in some cases. Please refer to “Cultured Cells” section (see tabs above) for those specimen requirements. If you are sending fresh/fresh frozen normal tissue samples, please call Ambry to discuss before sample submission.

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

Container

Cryogenic vial

Amount

1-2 ml of freshly collected or frozen semen

Storage

Frozen at -30°C for immediate storage

Stability

When stored per above, stable indefinitely

Shipping

Ship with liquid nitrogen or on dry ice (or with cold pack, if not available) for next-day delivery (required) using Ambry Sample Submission kit or similar

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 -20oC or greater than 30oC.

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 -20oC 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

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

  • 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.

Cultured Cells

  • We cannot culture cells at Ambry. Tissue culturing services are available through Genesis Laboratories for an additional charge.
  • 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

Frozen Semen

  • CONTAINER: Cryogenic vial
  • AMOUNT: 1-2 ml of frozen semen
  • STORAGE: Frozen at -30°C for immediate storage. DO NOT THAW.
  • STABILITY: When stored per above, stable indefinitely. 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 data from DNA obtained from blood spots is not available

Formalin-Fixed, Paraffin-Embedded (FFPE) Tissue

  • CONTAINER: Tissue blocks (preferred, with fixative noted) or slides
  • Tissue blocks: 0.5cm cube; prefer 1-2cm cube
  • Slides: 9 slides with 10 micron sections, plus 1 slide 5 micron for H&E
  • STORAGE: At room temperature
  • STABILITY: When stored per above, tissue blocks and slides can be used at any point for testing
  • SHIPPING: Ship as stored for 2-day delivery using the Ambry Sample Submission Kit, or similar. Please call ahead at +1 (949) 900-5500 and ship to arrive on Monday-Friday.
  • Possible Issues:
    • Tumor tissue blocks and slides not accepted
    • Please note chain of custody of the block/slides
    • FFPE specimens have a higher test failure rate (results therefore not guaranteed)
    • FFPE tissue samples offer limited amounts of DNA and thus will be exhausted for genetic testing
    • Deletion/duplication analysis is not available for FFPE tissue samples

Not Accepting Samples

  • We are unable to accept the following for post-mortem genetic testing:
  • Tumor tissue blocks and slides
  • DNA obtained from buccal (cheek) swabs
  • Samples collected in red top (serum with clotting additive) collection tubes

Search Results

Start your search...