Specimen Requirements

Ambry Genetics' specimen requirements are listed in an easy-to-use set of categories below. Please follow these directions closely when preparing to submit your specimen(s) to ensure successful testing and avoid delays. 

Click here to view printable specimen requirements. 

NOTE: Not every specimen type is accepted for every test we offer. Please see a specific test's webpage (links can be found here) for details, and don't hesitate to contact us with any questions.

 

General Specimen Requirements 

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 949-900-5500 to discuss before sample submissionNew York clients - Informed consent is required. Please document on the request form or electronic order that a copy is on file.
 
Some Notes about Sample Requirements for Post-Mortem Testing:
(for additional information, click here)
 
Whole blood/Fetal/Cord blood samples:
**Please contact Ambry 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. Blood samples not accepted for patients that have undergone allogenic bone marrow or peripheral stem cell transplant (BMT/pSCT), or who have a current hematologic diagnosis (e.g. leukemia or myelodysplastic syndrome). Due to the high quantity of donor/malignant cells in these sample types, we cannot accept blood samples for these individuals. They must submit cultured fibroblasts or fresh/fresh frozen normal tissue (no fixatives)Please refer to cultured cell requirements listed on this page. If you are sending fresh/fresh frozen normal tissue samples, please call Ambry at 949-900-5500 to discuss before sample submission.
 
Container: In order of preference: 1) EDTA tube (purple top) or 2) Citric Acetate tube (yellow top)
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: 180K oligo array requires 0.5-1cc minimum; SNP+CGH array requires 1cc minimum
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 patientsDNA quality may be affected  if patients have 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.

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.

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.

 

 

DNA samples:
Container: Sterile plastic tube
Amount: 5μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 200 μl at ~100 ng/μl concentration. DNA OD 260/280 ratio (preferred 1.7-1.9), and 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)
  • Next generation sequencing panels and clinical exome sequencing require minimum 20μg of DNA (~200 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 DNA extraction.
  • Chemotherapy patientsDNA quality may be affected  if patients have 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). 

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

Stability (when stored per above): Stable for 3-4 days at room temperature. Stable for at least 1 year, refrigerated. Stable indefinitely, frozen.

 

Fetal/Cultured samples:

We accept cultured cells from amniotic fluid, chorionic villi samping (CVS), products of conception, and fibroblasts. We accepted direct CVS tissue as well.

 

**Please contact Ambry 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.

 

Container: Cultured cells (CVS, amniocytes, products of conception, fibroblasts) in two sterile T25 cell flasks or suitable alternative in sterile culture media. Direct CVS tissue in sterile plastic tube or flask with sterile transport media. Please call to discuss case prior to shipping. Please maintain back-up cell culture if possible.

Amount: For cultured cells, two T25 cell flasks (one flask is acceptable) or suitable alternative at 80% confluence. For direct DVS tissue, 10mg cleaned tissue in sterile transport medium. 

Exception:

  • Clinical exome sequencing requires three T25 flasks of cultured fibroblasts at 80% confluence

Storage: Cell cultures in tissue culture incubator. Direct CVS tissue at room temperature 15-30°C (short-term) and refrigerated at 2-8°C (long-term, up to 72 hours). DO NOT FREEZE. 

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.

Stability (when stored per above): Stable for up to 72 hours, refrigerated

 

 

Saliva samples:

**Not available for all tests. Saliva samples not accepted for patients that have undergone allogenic bone marrow or peripheral stem cell transplant (BMT/pSCT), or who have a current hematologic diagnosis (e.g. leukemia or myelodysplastic syndrome). Due to the high quantity of donor/malignant cells in these sample types, we cannot accept blood samples for these individuals. They must submit cultured fibroblasts or fresh/fresh frozen normal tissue. Saliva samples also not accepted for proband clinical exome sequencing testingPlease refer to cultured cell requirements listed on this page. If you are sending fresh/fresh frozen normal tissue samples, please call Ambry at 949-900-5500 to discuss before sample submission.

 

Container: One Oragene self collection container. Two containers recommended for next generation sequencing panels (except BRCAplus and GYNplus, for which one Oragene container is acceptable).

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

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

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.

Stability (when stored per above): Stable up to 1 year

 

 

Blood spot samples:

**Not available for all tests - please call for availability

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

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

Stability (when stored per above): Stable indefinitely, room temperature in sterile bag

 

 

Bone marrow samples:

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

AmountAdult 3-5cc, Pediatric 2cc minimum

Exceptions:

  • Individuals who have undergone allogenic bone marrow or peripheral stem cell transplant (BMT/pSCT), or who have a current hematologic diagnosis (e.g. leukemia or myelodysplastic syndrome), must submit cultured fibroblasts or fresh/fresh frozen normal tissue (no fixatives).  Please refer to cultured cell requirements listed on this page. If you are sending fresh/fresh frozen normal tissue samples, please call Ambry at 949-900-5500 to discuss before sample submission

Storage: Refrigerated 2-8°C. DO NOT FREEZE.

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

 

 

Semen samples:

Container: Cryogenic vial

Amount: 1-2 ml of freshly collected or frozen semen

Storage: Frozen at -30°C for immediate storage

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