Specimen Requirements

Ambry Genetics' specimen requirements have been adapted into an easy to use set of instructions 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 

Blood Samples:
Container: Purple top EDTA tube (preferred) or yellow top citric acetate tube.
Amount: Adult 3-5 cc, pediatric 2 cc minimum. 
Exceptions:
  • Next Generation Sequencing Panels and Clinical Diagnostic Exome require 6-10cc, pediatric 5cc minimum
  • Chromosomal Microarray minimum for newborns: 180K Oligo Array (0.5-1cc); SNP+CGH Array (1cc)
  • Individuals who have undergone allogenic bone marrow or peripheral stem cell transplant (BMT/pSCT) or who have a current hematologic diagnosis (i.e. 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/fresh tissue requirements listed on this page.

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 conc.
Exceptions:
  • For specific mutation(s) analysis, minimum 1-2 μg of DNA (~100 ng/μl conc.).
  • For Next Gen Sequencing Panels or Clinical Diagnostic Exome, minimum 20 μg of DNA (~200 ng/μl conc.).

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: Shipment frozen on dry ice is preferred, or ship on ice.

For 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

Cultured Cells, Amniocytes & 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. 

Exceptions:

  • Clinical Diagnostic Exome 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 studies are required and available. We recommend sending parental bloods for mutation confirmation if previous parental testing was done elsewhere. Chromosomal microarray analysis is not available on prenatal samples.

 

Blood Spots:

Container: 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.

Shipment: At room temperature in sterile bag.

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 (i.e. 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/fresh tissue requirements listed on this page.

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.
Storage: At room temperature in sterile bag.
Shipment: Ship room temperature for two-day delivery

Exceptions:

  • Oragene Self Collection container is not suitable for the following tests:
  • Whole exome sequencing of proband (saliva kit may be used for co-segregation analysis of family members)***Note 2 Oragene Self Collecion containers must be submitted for any of our Next-Generation sequencing panels (XLID, CancerNext, PanCardio etc.)
  • Individuals who have undergone allogenic bone marrow or peripheral stem cell transplant (BMT/pSCT) or who have a current hematologic diagnosis (i.e. 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/fresh tissue requirements listed on this page.

Storage: At room temperature in sterile bag.

Shipment: Ship room temperature for two-day delivery

 

Semen:

Container: Cryogenic vial.

Amount: Adult 1-2 ml.

Storage: Frozen

Shipment: Ship in liquid nitrogen or on dry ice for next-day delivery.

 

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
Forms: Note: 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.