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.
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.
Adult: 3-5cc
Pediatric: 2cc minimum
Fetal/Cord blood: 2cc minimum
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.*
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.
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.
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.
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.
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.
Saliva samples not accepted for every test – please see below for exceptions
1 Oragene (OG-500) self-collection container. 2 Containers are required for all pediatric saliva testing kits and adults having ExomeNext for family member analysis.
1cc of freshly collected saliva in Oragene (OG-500) 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.
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.
In sterile bag, room temperature at 15-30°C
When stored per above, stable up to 1 year
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.
ORACollect Dx Buccal kit
Two completed swabs, collected as instructed on kit.
Available for all Neuropathy tests, Cardiology tests, Neurology panels, ExomeNext tests, Fragile X and chromosomal microarray (SNP array) tests, Specific Site Analysis tests.
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
Room temperature at 15-30 °C
When stored per above, stable for 30 days. Please contact Ambry if your sample is more than 30 days old.
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.
Sterile plastic tube
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).
Single Site Analysis requires minimum 1-2µg of DNA (~100 ng/µl concentration)
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.
Room temperature at 15-30°C (immediate). Refrigerated at 2-8°C (short-term). Frozen at -30°C (long-term).
When stored per above, stable for 3-4 days at room temperature. Stable for at least 1 year, refrigerated. Stable indefinitely, frozen.
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.
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.
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.
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.
Store direct villi at room temperature. DO NOT FREEZE.
Store cell cultures in tissue culture incubator. DO NOT FREEZE.
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.
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.
We accept cells cultured from skin punch biopsy (cultured fibroblasts) for testing as an alternative specimen. SNP microarray analysis is not available on cultured fibroblast cells.
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.
Two (2) sterile T25 cell flasks at 80% confluence, or suitable alternative, in sterile culture media. Culturing laboratory should maintain back-up cell culture.
For cultured cells, two T25 cell flasks or suitable alternative, at 80% confluence.
Store cell cultures in tissue culture incubator. DO NOT FREEZE.
When stored per above, stable up to 72 hours, refrigerated
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.
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.
Guthrie blood spot cards or Schleicher+Schuell (S&S) 903 specimen collection paper
Minimum one complete spot, approximately 0.5 inches in diameter
In sterile bag at room temperature (15-30°C) for short-term storage; frozen in sterile bag at 30°C for long-term storage
When stored per above, stable indefinitely
At room temperature, in sterile bag, for 2-day delivery (preferred) using the Ambry Sample Submission Kit, or similar
In order of preference: 1) EDTA tube (purple top) or 2) Citric acetate tube (yellow top)
Adult: 3-5cc
Pediatric: 2cc minimum
Refrigerated 2-8°C. DO NOT FREEZE.
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.
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.
Cryogenic vial
1-2 ml of freshly collected or frozen semen
Frozen at -30°C for immediate storage
When stored per above, stable indefinitely
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
Pathology specimens (e.g. liver, muscle, heart), direct chorionic villi (CVS)
Sterile plastic tube or flask filled with sterile transport medium
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
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
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.
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
Blood
DNA
Frozen Tissue
Bone Marrow
Cultured Cells
Frozen Blood
Frozen Semen
Blood Spots
We are unable to accept the following for postmortem genetic testing:
Tests including +RNAinsight require 1 PAXgene® blood tube for RNA analysis in addition to the purple top (EDTA) tube required for DNA testing.
Draw a minimum of 2.5 mL of blood in the PAXgene tube.
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.
Maintain samples at room temperature and ship on same day.
Note that PAXgene tubes sitting for >5 days at room temperature may have a higher risk of failure.
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