Frequently Asked Questions

How long will it take to receive the results of the whole exome sequencing?

4 November 2015

Which form do I complete on PhenoTips?

4 November 2015

Where do I provide phenotypic information?

4 November 2015

What do I have to provide?

4 November 2015

Who covers the cost of shipment and sequencing?
The MYO-SEQ project will cover all costs.

How do I enrol my centre onto the MYO-SEQ project?
To be officially enrolled, you must sign a Material Transfer Agreement between your centre and Newcastle University.

What do I have to provide?
We would like to receive a DNA sample as well as phenotypic information for each patient.

Where do I provide phenotypic information?
The MYO-SEQ project uses a database called PhenoTips. Once your centre is enrolled onto the project, our team will create an account for your centre which you can use to enter each patient’s phenotypic information.

Which form do I complete on PhenoTips?
We would like you to complete the ‘muscular dystrophy’ form for your patients.

How long will it take to receive the results of the whole exome sequencing?
Approximately nine months from receipt of your samples.

Should I send samples as I collect them or should I store them and send them as a batch?
Ideally, we would prefer centres to send their samples in a batch, therefore we would recommend storing the samples until there are a minimum of 5 samples to send.

How do we label the samples?
Once your centre is enrolled, we will dispatch QR-coded labels based on the number and type of sample you intend to send.

What account number do we use for shipment?
Once you have prepared your samples, contact Ines Hofer with a completed sample dispatch form and you will be provided with shipment details.

Do you have any further information?
Please contact the MYO-SEQ team and we will be happy to send an information pack to you.