General 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.

Click here to view printable 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 +1 949 900-5500 to discuss before sample submission. New 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, please click here)

 

CONTAINER: In order of preference: 1 EDTA tube (purple top) or 2 Citric acetate tube (yellow top) or Potassium oxalate/Sodium fluoride (grey 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 Array requires 1cc minimum
  • Blood samples not accepted for patients that have undergone an allogenic transplant (e.g. bone marrow or peripheral stem cell). 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 may not be accepted in some cases. 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.

 

**Saliva samples not accepted for all tests – 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:

  • Proband ExomeNext/ExomeNext-Rapid
  • PMEFirst, PMENext and CSTB dodecamer expansion analysis
  • Saliva samples not accepted for patients that have undergone an allogenic transplant (e.g. bone marrow or peripheral stem cell). 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. 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

 

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. For more details and their requisition form, please click here.

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.

 

**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

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