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 a successful testing. 

If you have any questions please don't hesitate to Contact Us. To view specimen requirements pdf, click here. 

General Specimen Requierments 

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)

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 recommended. Please submit cultured fibroblasts (see below).

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 or chorionic villi, as well as uncultured villi.

 

Container: Sterile plastic tube.

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

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 recommended and available at . 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: 2-8°C up to 72 hours. Do not freeze.

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.

Storage: 2-8°C. Do not freeze.

Shipment: Room temperature for two-day delivery.

 

Saliva:

Container: Oragene or Oasis DNA Self Collection container.

Amount: 2 ml. 

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.

 

Specimen requirements for various tests.
 

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.
 
Tumor Testing:
Shipping instructions for tumor blocks/slides: A copy of the patient’s pathology report is required for all tumor specimens. Tumor blocks may be shipped in an Ambry specimen box (or equivalent container) at room temperature via regular 2-day FedEx. Tumor slides should be shipped in protective slide cases and tumor blocks should be packaged in a protective plastic pouch or sleeve.
 
  • Microsatellite Instability (MSI), Tumor

Specimen Requirements: A formalin-fixed, paraffin embedded (FFPE) tissue block from the patient’s tumor is required. Corresponding hematoxylin-and-eosin (H&E) slides may be included but are not required. There is usually sufficient quantity of normal cells around the tumor for MSI normal control. If the quantity of normal cells in the tumor block is insufficient, the patient’s peripheral blood collected in a tube with EDTA (ie purple-top tube) is acceptable as well.

ALTERNATIVE: If a tumor tissue block is not available, please submit 4 UNSTAINED sections from the tumor (and normal tissue block, if desired) mounted on POSITIVELY-charged slides. Each section needs to be 7 (preferably 10) microns in thickness.

  • Immunohistochemistry (IHC), Tumor
Specimen Requirements: A formalin-fixed, paraffin embedded (FFPE) tissue block from the patient’s tumor is required. Corresponding hematoxylin-and-eosin (H&E) slides may be included but are not required. 
 
ALTERNATIVE: If a tumor tissue block is not available, please submit 6 UNSTAINED sections from the tumor (preferably 10 unstained sections, if possible) mounted on POSITIVELY-charged slides. Each section needs to be 3-5 microns in thickness. 
 
  • BRAF Mutation Analysis (V600E), Tumor

Specimen Requirements:This test is only performed on colon or endometrial tumors with confirmed loss of MLH1 protein expression. A formalin-fixed, paraffin embedded (FFPE) tissue block from the patient’s tumor is preferred. There is usually sufficient quantity of normal cells around the tumor for BRAF normal control. If the quantity of normal cells in the tumor block is insufficient, the patient’s peripheral blood collected in a tube with EDTA (ie purple-top tube) is acceptable as well.

ALTERNATIVE: If a tumor tissue block is not available, please submit 1 hematoxylin-and-eosin (H&E) slides and 10 UNSTAINED, UNBAKED sections from the tumor tissue 10 microns in thickness. The sections should contain both tumor and normal tissue. 

 
  • MLH1 Hypermethylation Analysis, Tumor
Specimen Requirements:This test is only performed on colon or endometrial tumors with confirmed loss of MLH1 protein expression. A formalin-fixed, paraffin embedded (FFPE) tissue block from the patient's tumor is preferred. The specimen should contain both tumor and normal tissue. 
 
ALTERNATIVE: If a tumor tissue block is not available, please submit 1 hematoxylin-and-eosin (H&E) slides and 10 UNSTAINED, UNBAKED sections from the tumor tissue 10 microns in thickness. The sections should contain both tumor and normal tissue. 
 
*NOTE: Please call Ambry Genetics to discuss your case with a genetic counselor if other tumor testing is ordered in addition to MHL1 Hypermethylation Analysis, as additional specimen requirements may apply.