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. 

Click here to view printable specimen requirements.
If you have any questions please don't hesitate to Contact Us.

General Specimen Requirements 

Please label each specimen and requisition with at least 2 unique identifiers specific to the patient (e.g. patient name and date of birth/medical record number). In the event of a deceased patient, please call Ambry at 949-900-5500 to discuss before sample submission
 
Blood Samples:
Container: Purple top EDTA tube (preferred) or yellow top Citric Acetate tube.
Amount: Adult 3-5cc, pediatric 2cc minimum. 
Exceptions:
  • Next generation sequencing panels (all except BRCAplus and GYNplus) and clinical exome sequencing require 6-10cc, pediatric 5cc minimum
  • Chromosomal microarray minimum for newborns: 180K oligo array requires 0.5-1cc; SNP+CGH array requires 1cc
  • Saliva samples contain a high volume of white blood cells, and are not suitable for those 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.  Due to the high quantity of donor/malignant cells in these sample types, we cannot accept blood or saliva for these individuals.  Please refer to cultured cell requirements listed on this page. If you are sending us fresh/fresh frozen normal tissue samples, please call Ambry at 949-900-5500 to discuss before submitting the sample

Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.

 
Transfusion patients: Wait at least two weeks after a packed cell or platelet transfusion, and at least four weeks after a whole blood transfusion prior to blood draw.

Bone marrow transplanted patients: Blood or saliva samples are not accepted. Please submit cultured fibroblasts (see below).

Chemotherapy patients: DNA 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.

DNA:

Container: Sterile plastic tube.
Amount: 5 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 200 μl at ~100 ng/μl concentration.
Exceptions:
  • For specific mutation(s) analysis, minimum 1-2 μg of DNA (~100 ng/μl concentration).
  • For next generation sequencing panels and clinical exome sequencing, minimum 20 μg of DNA (~200 ng/μl concentration).

Quality: Please provide DNA OD 260:280 ratio (preferred 1.7-1.9) and send agarose picture with high molecular weight genomic DNA, if available.
Storage: -20°C.
Shipment: Shipped frozen on dry ice is preferred, or ship on ice.

It is recommended if DNA has undergone multiple freeze/thaw cycles that it not be submitted.

For transfusion patients: Wait at least 2 weeks after a packed cell or platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to blood draw.

Cultured Cells, Amniocytes and Chorionic Villus Samples:

We accept cultured cells from amniotic fluid, chorionic villi (as well as uncultured villi), and fibroblasts.

 

Container: Sterile plastic tube.

Amount of cultured cells: Prefer two T25 cell flasks (one flask is acceptable) or suitable alternative at 80‰ confluence. 

Exception:

  • Clinical exome sequencing requires three T25 flasks of cultured fibroblasts.

Amount of uncultured villi: 10 mg cleaned tissue in sterile transport medium.

Storage: 2-8°C up to 72 hours. Do not freeze.

Shipment: Please call ahead when sending prenatal samples.

Maternal cell contamination (MCC) studies are required and available. 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 Spots:

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

Amount: Minimum of one complete spot of approximately 0.5 inch in diameter.

Storage: Room temperature in a sterile bag (15-30°C) for short-term storage; frozen stored in sterile bag (-30-0°C) for long-term storage.

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

Availability: Blood spot testing is not available for all tests. Please call for availability.

 

Bone Marrow:

Container: Purple top EDTA tube (preferred) or yellow top citric acetate tube.

Amount: Adult 3-5 cc, pediatric 1 cc 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.  Due to the high quantity of donor/malignant cells in these sample types, we cannot accept blood or saliva for these individuals.  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: 2-8°C. Do not freeze.

Shipment: Room temperature for two-day delivery.

 

Saliva:

Fill 1 tube with saliva up to black line (1cc of saliva) in Oragene self collection container. After tube is closed, 1cc of buffer will mix with saliva for a total volume of 2cc. Remove buffer solution piece and cap the tube tightly.
Storage: At room temperature in sterile bag.
Shipment: Ship room temperature for two-day delivery

Exceptions:

  • Note: 2 Oragene self collection containers must be submitted for any of our next generation sequencing panels (e.g. XLID, CancerNext, others)
  • Oragene self collection container is not suitable for the following tests:
    • Clinical exome sequencing (but saliva kit may be used for co-segregation analysis of family members)
    • 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.  Due to the high quantity of donor/malignant cells in these sample types, we cannot accept blood or saliva for these individuals.  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: At room temperature in sterile bag.

Shipment: Ship room temperature for two-day delivery using the Ambry Sample Submission kit or similar.

 

Semen:

Container: Cryogenic vial.

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

Storage: Frozen (-30°C) for immediate storage.

Shipment: Ship in liquid nitrogen or on dry ice for next-day delivery (required) or with cold back if this service is not available, using Ambry Sample Submission kit or similar.

 

Tay-Sachs enzyme (hexosaminidase A and total hexosaminidase, leukocytes):

Specimen required: Specimen must arrive within 96 hours of draw to be stabilized. Draw specimen Monday through Thursday only and not the day before a holiday. Specimen should be drawn and packaged as close to shipping time as possible.
Container/Tube: Yellow-top (ACD) tube(s)

Amount: Minimum 5-7 cc of whole blood
Note on forms: New York clients - Informed consent is required. Please document on the request form or electronic order that a copy is on file.
Collection instructions: Do not transfer blood to other containers.