We are finally getting to do the sweat test and full panel

hmw

New member
The Ambry test is *only* processed at their facility in California; they get samples from all over the world. Whatever lab draws the blood packages it up in a special kit and sends it out to them.

When I looked up Mayo and their cf testing, all I could find was a panel of 70-something mutations, and that they considered this comprehensive because it was more than the recommended 23 mutations tested for on the newborn screen.

No panel test will identify 99% of all mutations. Only genetic sequencing can do that, given there are over 1,500 mutations- and even with those tests there is a margin of error (about 2% of people with CF will only have one identified mutation.) Ambry is not the only company that offers genetic sequencing, but they are the only one that tests for deletions and duplications (Genzyme and Quest do not) and that increases detection rate.
 

hmw

New member
The Ambry test is *only* processed at their facility in California; they get samples from all over the world. Whatever lab draws the blood packages it up in a special kit and sends it out to them.

When I looked up Mayo and their cf testing, all I could find was a panel of 70-something mutations, and that they considered this comprehensive because it was more than the recommended 23 mutations tested for on the newborn screen.

No panel test will identify 99% of all mutations. Only genetic sequencing can do that, given there are over 1,500 mutations- and even with those tests there is a margin of error (about 2% of people with CF will only have one identified mutation.) Ambry is not the only company that offers genetic sequencing, but they are the only one that tests for deletions and duplications (Genzyme and Quest do not) and that increases detection rate.
 

hmw

New member
The Ambry test is *only* processed at their facility in California; they get samples from all over the world. Whatever lab draws the blood packages it up in a special kit and sends it out to them.

When I looked up Mayo and their cf testing, all I could find was a panel of 70-something mutations, and that they considered this comprehensive because it was more than the recommended 23 mutations tested for on the newborn screen.

No panel test will identify 99% of all mutations. Only genetic sequencing can do that, given there are over 1,500 mutations- and even with those tests there is a margin of error (about 2% of people with CF will only have one identified mutation.) Ambry is not the only company that offers genetic sequencing, but they are the only one that tests for deletions and duplications (Genzyme and Quest do not) and that increases detection rate.
 

hmw

New member
The Ambry test is *only* processed at their facility in California; they get samples from all over the world. Whatever lab draws the blood packages it up in a special kit and sends it out to them.

When I looked up Mayo and their cf testing, all I could find was a panel of 70-something mutations, and that they considered this comprehensive because it was more than the recommended 23 mutations tested for on the newborn screen.

No panel test will identify 99% of all mutations. Only genetic sequencing can do that, given there are over 1,500 mutations- and even with those tests there is a margin of error (about 2% of people with CF will only have one identified mutation.) Ambry is not the only company that offers genetic sequencing, but they are the only one that tests for deletions and duplications (Genzyme and Quest do not) and that increases detection rate.
 

hmw

New member
The Ambry test is *only* processed at their facility in California; they get samples from all over the world. Whatever lab draws the blood packages it up in a special kit and sends it out to them.
<br />
<br />When I looked up Mayo and their cf testing, all I could find was a panel of 70-something mutations, and that they considered this comprehensive because it was more than the recommended 23 mutations tested for on the newborn screen.
<br />
<br />No panel test will identify 99% of all mutations. Only genetic sequencing can do that, given there are over 1,500 mutations- and even with those tests there is a margin of error (about 2% of people with CF will only have one identified mutation.) Ambry is not the only company that offers genetic sequencing, but they are the only one that tests for deletions and duplications (Genzyme and Quest do not) and that increases detection rate.
 
Thank you so much for the clarification! I will definitely pass this along to the ENT doc. In fact I think I will call her pulmo back tomorrow and fully explain why I want the Ambry done.
 
Thank you so much for the clarification! I will definitely pass this along to the ENT doc. In fact I think I will call her pulmo back tomorrow and fully explain why I want the Ambry done.
 
Thank you so much for the clarification! I will definitely pass this along to the ENT doc. In fact I think I will call her pulmo back tomorrow and fully explain why I want the Ambry done.
 
Thank you so much for the clarification! I will definitely pass this along to the ENT doc. In fact I think I will call her pulmo back tomorrow and fully explain why I want the Ambry done.
 
Thank you so much for the clarification! I will definitely pass this along to the ENT doc. In fact I think I will call her pulmo back tomorrow and fully explain why I want the Ambry done.
 
Top