Sample requirements and shipping

Amniotic Fluid

Amount Needed:

After discarding the first 1-2mL, collect approximately 20 mL of amniotic fluid in a sterile syringe

Storage Instructions:

Transfer amniotic fluid to a sterile screw-top 50 mL plastic conical tube for transport
Maintain at room temperature

Additional Directions:

Note the gestational age in weeks
Uniquely identify twins

Blood – Molecular Genetics Test

Amount Needed:

Sample must be of sufficient volume based on test requested

Storage Instructions:

• Collect into sterile EDTA lavender-top vacutainer tube
• Do not freeze or centrifuge
• Maintain at room temperature

Additional Directions:

• Sample must be received in 3 days or less for FSHD (fascioscapulohumeral muscular dystrophy) and Myotonic dystrophy type II testing from date collected.
• Sample must be received in 5 days for all other tests.
• Note: Please check the test requested section to see if DNA is an acceptable sample type for the desired test.

Blood - Standard Chromosome Analysis/Constitutional FISH (including Microarray Follow Up)

Amount Needed:

• Adult: 1x 10 mL
• Infant (<1 yr of age): 1 x3 mL

Storage Instructions:

• Collect into sterile sodium heparin green-top vacutainer tube
• Maintain at room temperature

Additional Directions:

If blood specimens are not obtainable for Microarray Follow up FISH testing, please contact the laboratory

Blood - Microarray Analysis/Microarray Follow Up qPCR

Amount Needed:

• Newborns and infants: 3 mL
• Adults and children ≥2 yrs: 7-10 mL

Storage Instructions:

• Collect into sterile EDTA lavender-top vacutainer tube
• Do not freeze or centrifuge
• Maintain at room temperature

Additional Directions:

If blood specimens are not obtainable for Microarray Follow up qPCR testing, please contact the laboratory.

Bone Marrow Specimens/Oncology Peripheral Blood Specimens

Amount Needed:

• 1 mL bone marrow aspirate (first draw)
• If a bone marrow aspirate is unobtainable, analysis can be done on a 5-10 mL peripheral blood sample with 10% or greater circulating blasts.

Storage Instructions:

• Collect into sterile sodium heparin green-top vacutainer tube
• Maintain at room temperature and send to the laboratory as soon as possible.

Additional Directions:

• For bone marrow it is important that a first draw, spicule rich sample be collected.
• For blood samples, please provide white blood cells and % of circulating blasts on the requisition.

Chorionic Villi Sampling (CVS)

Amount Needed:

• Approximately 20 mg budding chorionic villi (minimum 10 mg)

Storage Instructions:

• Transfer budding villi into sterile screw-top plastic container containing sterile transport media.
• Pre-prepared containers available to physicians at the Ottawa Hospital General Campus by advance request to the laboratory.
• Maintain at room temperature

Additional Directions:

• Note the gestational age in weeks
• Uniquely identify twins
• For specimens on which additional molecular testing is required, a larger sample may be required. Please contact the CHEO Genetics Diagnostic Laboratory prior to collecting sample

Lymph Node Biopsy/Tumour Tissue Biopsy

Amount Needed:

• Lymph node biopsy or solid tumour tissue

Storage Instructions:

• Collect in a new sterile container, with culture medium supplemented with 1% antibiotics.
• Pre-prepared containers available to physicians at the Ottawa Hospital General Campus by advance request to the laboratory.
• Maintain at room temperature unless transit is to be delayed (see below).
• Send to the laboratory as soon as possible.

Additional Directions:

• If transit is to be delayed for more than one day, refrigerate sample (in sterile culture media). Do not freeze.
• Do not use alcohol, formalin, distilled water or any other type of preservative.

Products of Conception (POC)/Intrauterine Fetal Deaths (IUFD)/Stillbirth/Skin Biopsy/Constitutional Tissue Biopsy

Amount Needed:

• Minimum of 3-4 mm2 biopsy by sterile procedure

Storage Instructions:

• An intact fetus will not be accepted by the Cytogenetics section of the Genetics Diagnostic Laboratory
• Products of Conception (POCs), intrauterine fetal deaths (IUFDs) and stillbirths MUST be sent to a Pathology laboratory, where they will be prepared and then automatically transferred to the CHEO Genetics Diagnostic Laboratory for testing.
• Completed requisitions from both the Pathology AND Genetics Diagnostic laboratories are required.
• Transfer sample into a sterile screw-top plastic container containing sterile culture media supplemented with 1% antibiotics or in sterile isotonic saline (e.g. Ringers) solution.
• Pre-prepared containers available to physicians at the Ottawa Hospital General Campus by advance request to the laboratory.
• Maintain at room temperature unless transit is to be delayed (see below).
• Send to the laboratory as soon as possible.

Additional Directions:

• Do not use alcohol, formalin, distilled water or any other type of preservative.
• If transit is to be delayed for more than one day, refrigerate sample (in sterile culture media or isotonic saline). Do not freeze.