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. View printable Specimen Requirements PDF.

For Clinical Diagnostic Exome™

Specimen: 6-10 cc blood per patient in purple top EDTA tube (preferred) or yellow top citric acetate tube.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.
 
Or 
 
Specimen: 20μg (10μg minimum) of DNA in TE or Qiagen EB buffer, 50-100ng/μl by pico green, OD 260/280 of 1.8-2.0 and 260/230 of >1.5, and send picture of agarose gel of DNA run with high mw genomic DNA standards, if available
Storage: -20°C
Shipment: Ship on ice or dry ice for next day delivery
 

For XLMR / Intellectual Disabilities SuperPANEL™

Specimen: 5-10 cc blood in purple top EDTA tube (preferred) or yellow top citric acetate tube.
For XLMR Array Plus™, add 5 cc in green-top sodium heparin tube. Maximum of 15 cc for all tests.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.
 

For Chromosomal Microarray 180K

Amount: 4 cc blood in purple-top EDTA tube AND 4 cc in green-top sodium heparin tube.
Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for Overnight Standard 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)
Specimen Volume: 7 mL of whole blood (Minimum Volume 5 mL) 
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. 
 
 

All Other Tests

 
Blood Samples:
 
Container: Purple top EDTA tube (preferred) or yellow top citric acetate tube.
Amount: Adult 3-5 cc, pediatric 2 cc minimum.
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.
 

DNA:

 
Container: Sterile plastic tube.
Amount: min. 20 μg of DNA in TE (10mM Tris-Cl pH 8.0, 1mM EDTA); preferred 200 μl at ~100 ng/μl.
For specific mutation(s) analysis: min. 5 μg of DNA (~100 ng/μl conc.).
Please provide DNA OD 260-280 ratio (preferred 1.7-1.9) and send agarose picture with high mw 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.
 
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: Please call for availability of testing on blood spots or see specimen requirements of specific test.
Blood spots not accepted for Ashkenazi Jewish FlexPanel, Gaucher (GBA), Hunter (IDS), Hurler (IDUA),
HNPCC (MLH1, MSH2, MSH6), CCHS (PHOX2B), PRSS1 (pancreatitis), Shwachman-Diamond (SBDS), Angelman-Like Syndrome,
(SLC9A6), or AAT Deficiency (SERPINA1) or Angelman/Prader-Willi Syndrome (UBE3A, SNRPN methylation).
 
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: Oragenea 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.