Sample submission

The Molecular Genetics Laboratory accepts referrals from healthcare providers only.
Patient requisitions must be signed by the referring health-care provider.

1.1. Patient should be appropriately identified and prepared for sample collection.

1.2. Specimens should be collected in an appropriate sized tube and labeled with the patient name and DOB as minimum identifiers

! See table below for specimen types accepted by the laboratory.

Specimen Type	Specimen Requirements	Storage	Comments
Whole blood	5-10 mL EDTA or ACD 0.5 mL EDTA (neonate)	Room Temp.	-
Cord blood	5 mL EDTA	Room Temp.	-
Bone marrow	5 mL EDTA	Room Temp.	-
Genomic DNA	minimum 10 ug in 100 uL low TE (pH8.0)	Room Temp.	-
Amniotic fluid	10-20 cc. fluid	Room Temp.	Contact the laboratory regarding feasibility.
Cultured Amniocytes	1-2 T25 flask	Room Temp.	Keep a backup flask growing
Chorionic villi	10-25 mg villi	Wet Ice or Room Temp in media	Keep a backup flask growing
Cheek brush/swab	2 sterile brushes or 2 sterile swabs	Room Temp.	Contact the laboratory regarding feasibility.
Tissue	200 mg	Dry Ice	Specimen must be snap frozen within 1 hr of collection
Semen	1-2 mL	Liquid Nitrogen	-
Blood spot	2 blood spots	Room Temp.	-
Tumour	-	Room Temp. in media	-
Saliva (Oragene)	2 mL of saliva	Room Temp.	Contact the laboratory regarding feasibility.
Paraffin-embedded tissue	~40 shavings off a bloc	Room Temp.	-

1.3. Complete a molecular genetics requisition with the following information:

- Name of the individual and DOB
- Disease indication and reason of referral
- Family information (including the name and DOB of the affected individual; CK information for DMD families). Preferably the pedigree of the entire kindred should be appended to the requisition. Indicate if a woman is pregnant as well as the LMP date

- Please indicate RUSH / STAT on the outside of the package. Call (416)813-6590 and provide the courier's name and waybill # so that samples that do not arrive can be traced.

Tumour (a fresh or frozen, not fixed, tumour sample is required from patients with unilateral RB and no family history)

- Note: Please call the laboratory so that we can provide you the sterile tubes containing tissue culture media (RPMI) with 100 ug/uL of penicillin streptomycin and 10-15 per cent serum.
- After enucleation, cut off the optic nerve and send as a separate pathology sample.
- Open the globe with a pupillary-optic nerve section as in routine eye pathology. Exercise/scoop out the bulk of tumour from the inside of the eye, leaving tumour-optic nerve and tumour-choroid relationships undisturbed for pathological evaluation.
- Place fresh RB tumour in the tissue culture media (see above).
- Tubes MUST BE LABELLED with the name, DOB and the date the sample was drawn.

- The specimen should be shipped on a Monday, Tuesday or Wednesday so that the Molecular Genetics Laboratory will receive the specimen within 24-48 hours after collection. If there is a delay in the shipping of specimen (i.e.>48 hours), the sample should be placed in the refrigerator and shipped to the Molecular Genetics Laboratory on ice. Please call to inform us when the samples are being sent so that we can contact you if they do not arrive as expected

Please refer to specimen requirements and shipping instructions above before sending specimens.

For patients with an Ontario Health Card: complete only the first three pages of the Molecular Genetics Requisition & Laboratory Testing: Billing Form (pdf)
For patients without an Ontario Health Card: complete all four pages of the Molecular Genetics Requisition & Laboratory Testing: Billing Form (pdf)
For patients undergoing tests under Tay-Sachs Carrier Screening Program please print and complete:
- Molecular Genetics Requisition & Laboratory Testing: Billing Form (pdf) (as required above)
  
  and the additional:
- Tay-Sachs Carrier Screening Program - Biochemical Testing Requisition (pdf) with specimen requirements specific to the Tay-Sachs Carrier Screening Program.

If you have any questions, please contact the Molecular Genetics Laboratory:

Phone: 416-813-7200 x1
Fax: 416-813-7732
e-mail: leslie.steele@sickkids.ca

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