Healthcare professionals

What type of carrier screening is offered at the MUHC to the Ashkenazi Jewish population?

Following the joint recommendations of the Canadian College of Medical Geneticists (CCMG) and the Society of Obstetricians and Gynaecologists of Canada (SOGC), we offer screening for Tay-Sachs disease, Canavan disease and familial dysautonomia to any individual who has at least one grandparent of AJ ancestry.

How are these conditions inherited?

These 3 genetic conditions are inherited in an autosomal recessive manner, which means that both parents have to be carriers in order to have a risk of having an affected child.

Should an Ashkenazi Jewish individual have the screening test?

Being screened for carrier status for a genetic condition is a personal choice.

When should one have the screening test?

The optimal time for the determination of a couple’s carrier status and planning pregnancy options is before pregnancy.

What are the carrier frequencies for these conditions?

What are the steps that your patients will go through with the MUHC Ashkenazi Jewish program?

Step One: Individuals need to go through this AJ screening website.

Step Two: Individuals will have the opportunity to print documents at the end of the program and go to the Test Centre of the McGill University Health Center Glen site for a blood draw.

Step Three: Individuals will receive a phone call from a genetic counsellor with their result approximately 3 months later.

Where to refer your patients?

You can refer your patients of Ashkenazi Jewish ancestry to this website. Click to access a fact sheet that can be printed and distributed to your patients.

You can use this referral form to refer them to the Department of Medical Genetics (fax: 514-412-4296).

For Urgent referrals or if your patient is pregnant, you can use the referral form above or contact the Department of Medical Genetics at 514-412-4427 (fax: 514-412-4296).