DNA sequencing what company does this?

[Beccamom]

How does a person get DNA sequencing done? My understanding is this tests for all mutations even if the consequence of the mutation is unknown. Is this what the full Quest testing including duplications and deletions does? Is this what Ambry's full testing including deletions and duplications does?

Does anyone know if the Ambry largest panel test tests for any more mutations then Quests largest panel?

My daughter has 1 CF mutation found and is treated for CF, but I have found a few recent road blocks due to the lack of an official diagnosis. This is why I am trying to learn more about DNA sequencing.

 

[StevenKeiles]

Answer from Ambry

Beccamom

The test that you need done is Ambry CF Amplified. This is full sequencing and deletion testing and is the most comprehensive testing available for CF. all panels only check for certain mutations, that is why you need sequencing to be able detect all mutations. Or at least 99%.
good luck

Steve

Steven Keiles, MS, CGC
Director of Clinical Affairs
Ambry Genetics

 

[tysmama]

My sons was done through quest. The doctors office drew the blood and the hospital sends it to the lab affiliated with the hospital. We didn't get the option of lab. My understanding is the test is done the same at either. It reviews the entire gene sequence and checks for any mutation. Takes about 6 weeks.

 

[Julie7]

I don't think the last post is correct. I think you have to request deletions and duplications as a separate test. There are multiple companies who can do this and some claim more mutations can be found via their lab. You could ask and request additional tests be added, they already have the blood and may not need another stick. There are other DNA sequencing for other diseases that overlap CF (in terms if symptoms) like PCD, SDS and other hereditary pancreatic disorders. Hope that helps.

 

[Beccamom]

My daughter had quest largest panel including deletion w and duplications and I had amber largest panel including deletions and duplications. Is it different to have have gene sequencing?

Does gene sequencing look for all mutations verse specific mutations in the panel?

I don't think the last post is correct. I think you have to request deletions and duplications as a separate test. There are multiple companies who can do this and some claim more mutations can be found via their lab. You could ask and request additional tests be added, they already have the blood and may not need another stick. There are other DNA sequencing for other diseases that overlap CF (in terms if symptoms) like PCD, SDS and other hereditary pancreatic disorders. Hope that helps.

 

[rtorres25]

1 CF mutation

I am an adult diagnosis. I, too, only show 1 CF mutation. They list the other as "unknown", but assume it is CF, b/c I had a positive sweat chloride test, pseudomonis, etc. I don't have any pancreatic involvement, though.