/ SNP GENOTYPINGSERVICE
QUALITY SYSTEM DOCUMENT
Title: SNP GENOTYPING SERVICE SAMPLE SUBMISSION GUIDELINES / Document No.: 20.1.D
Version: 2
Effective Date: 20thJuly 2014

SNP GenotypingService Sample Submission Guidelines

Project Submission

Please send the list of SNPs as RS numbers in an excel sheet. We will provide you with an assay design which will clarify which SNPs will give results and which SNPs are rejected. We will also provide you with a quotation. Once you accept this quotation we will order all primers involved which will take about 8 days to be received in the facility. We will inform you when the primers have arrived and we are ready to receive your DNA samples

DNA sample submission

96 or 384

Samples can be submitted in 96well or 384well plates. We prefer sample submissions in 384well plates. If submitted in a 384 well plate the DNA should have a minimum concentration of 10ng in each well of the 384well plate. The concentration can be in the range of 10ng to 20ng. If samples are submitted in a 96well plate the concentration must be at least 100ng per well. Sample plates must be sealed with an adhesive seal before sending to the Molecular Genetics facility.

Volume

Volume does not matter as samples must be dried down for submission (heat plate for 10min at 80C with no lids or seal until all liquid has evaporated).

Quality of DNA

The cleaner the DNA the better the results. Column cleaned DNA will give the best results. Degraded or “dirty” DNA that has only been Proteinase K digested without cleanup will lead to many SNPs not working and lots of weak quality scoring. For SNP genotyping multiplex PCR is used which requires very clean DNA.

Electronic Sample Submission Form & Labelling of Plates

Sample Submission Form

We need an electronic sample submission form to feed the analysis software. Please use the sample submission form from our website for your sample submission: (, please select “Sample Submission Form”). If notavailable, please send an email toand request a sample submission form, we will send you a form immediately.

Labeling of plates

Sample plates need to be labeled according to the sample submission form that is submitted electronically with the samples.

Ideally a unique identifying number (like the date) and the name of the submitting person is written onto the plate with a permanent marker, for example “Adorado_21032014”.

Sending or Handing in

If sending please use couriers or express post, send samples in a simple patted envelope(as DNA is dried down it does not require cooling).

Shipping Address:

Please address your samples to: or drop your samples off:

Garvan Institute / GMGFridge in the Molecular Genetics facility

Loading DockRoom # 8.05 (main room)

West Street (off Burton Street)Fridge 1 / Shelf 1

Darlinghurst, NSW, 2010SNP Genotyping Service reception tray

Dock Times: 8am to 4pm

Phone: 02 9295 8640

Results

Results will be emailed to youwithin an approximate turnaround time of 14 working days.

Contact Staff:

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/ SNP GENOTYPINGSERVICE
QUALITY SYSTEM DOCUMENT
Title: SNP GENOTYPING SERVICE SAMPLE SUBMISSION GUIDELINES / Document No.: 20.1.D
Version: 2
Effective Date: 20thJuly 2014

Pavel Bitter

Molecular Genetics Facility Manager

Garvan Molecular Genetics

Phone: 02 92958384

Email:

Internet:

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