Need help - please ... Is genzyme test comprehensive like Ambry?

J

jeannes

Guest
Hi -
My 14 yr old son was diagnosed with CF in Jan by a pulmonogist after 2 positive sweat tests (62, 66). The CF center did not confirm his diagnosis even after 2 more sweat tests (70, 57). They use Genzyme labs, which seems to test for 97 mutations and then deletions and duplications. He was negative for mutations, but has 3 variants - once being a 5T intron variant. I was told these are of no clinical significance since he did not have a mutation. Does anybody know if Genzyme is as comprehensive as Ambry (which does 1500 mutations)? (right now I am a bit confused about what the deletions and duplications mean)

He does culture staph. His CT was mostly normal but showed some mild dilation and atelectasis. He had occasional hemoptysis. A bronchoscopy (done locally) showed inflammation, mucus plugs, and was white rather than pink. His biggest problem is fatigue, abdominal pain and diarrhea, but his fecal elastase was 460 so I do not have an explaination for that. He does have non-specific microscopic inflammation throughout his digestive tract and blood tests indicating Crohn's.

He is not on any treatment currently.

Thanks for any advice!
We live in NY and went to clinic at Columbia.
We are going for a NPD at Johns Hopkins in May.
 
J

jeannes

Guest
Hi -
My 14 yr old son was diagnosed with CF in Jan by a pulmonogist after 2 positive sweat tests (62, 66). The CF center did not confirm his diagnosis even after 2 more sweat tests (70, 57). They use Genzyme labs, which seems to test for 97 mutations and then deletions and duplications. He was negative for mutations, but has 3 variants - once being a 5T intron variant. I was told these are of no clinical significance since he did not have a mutation. Does anybody know if Genzyme is as comprehensive as Ambry (which does 1500 mutations)? (right now I am a bit confused about what the deletions and duplications mean)

He does culture staph. His CT was mostly normal but showed some mild dilation and atelectasis. He had occasional hemoptysis. A bronchoscopy (done locally) showed inflammation, mucus plugs, and was white rather than pink. His biggest problem is fatigue, abdominal pain and diarrhea, but his fecal elastase was 460 so I do not have an explaination for that. He does have non-specific microscopic inflammation throughout his digestive tract and blood tests indicating Crohn's.

He is not on any treatment currently.

Thanks for any advice!
We live in NY and went to clinic at Columbia.
We are going for a NPD at Johns Hopkins in May.
 
J

jeannes

Guest
Hi -
<br />My 14 yr old son was diagnosed with CF in Jan by a pulmonogist after 2 positive sweat tests (62, 66). The CF center did not confirm his diagnosis even after 2 more sweat tests (70, 57). They use Genzyme labs, which seems to test for 97 mutations and then deletions and duplications. He was negative for mutations, but has 3 variants - once being a 5T intron variant. I was told these are of no clinical significance since he did not have a mutation. Does anybody know if Genzyme is as comprehensive as Ambry (which does 1500 mutations)? (right now I am a bit confused about what the deletions and duplications mean)
<br />
<br />He does culture staph. His CT was mostly normal but showed some mild dilation and atelectasis. He had occasional hemoptysis. A bronchoscopy (done locally) showed inflammation, mucus plugs, and was white rather than pink. His biggest problem is fatigue, abdominal pain and diarrhea, but his fecal elastase was 460 so I do not have an explaination for that. He does have non-specific microscopic inflammation throughout his digestive tract and blood tests indicating Crohn's.
<br />
<br />He is not on any treatment currently.
<br />
<br />Thanks for any advice!
<br />We live in NY and went to clinic at Columbia.
<br />We are going for a NPD at Johns Hopkins in May.
 
P

Printer

Active member
Earlier this month, I had blood drawn for the purpose of identifying my second defective gene. The blood was going to Genzyme. On the requisition for blood, there were three boxes, one of which the Doctor could check. The choices were from, a narrow scan, a narrow scan with authorization to scan further or in my case a complete Cystic Fibrosis scan.

It would seem that your Doctor checked the most inexpensive box.

Bill
 
P

Printer

Active member
Earlier this month, I had blood drawn for the purpose of identifying my second defective gene. The blood was going to Genzyme. On the requisition for blood, there were three boxes, one of which the Doctor could check. The choices were from, a narrow scan, a narrow scan with authorization to scan further or in my case a complete Cystic Fibrosis scan.

It would seem that your Doctor checked the most inexpensive box.

Bill
 
P

Printer

Active member
Earlier this month, I had blood drawn for the purpose of identifying my second defective gene. The blood was going to Genzyme. On the requisition for blood, there were three boxes, one of which the Doctor could check. The choices were from, a narrow scan, a narrow scan with authorization to scan further or in my case a complete Cystic Fibrosis scan.
<br />
<br />It would seem that your Doctor checked the most inexpensive box.
<br />
<br />Bill
 
R

Ratatosk

Administrator
Staff member
If they only tested for 100 or fewer mutations, then no, IMO it appears it was not adequate.

I believe there are some other companies similar to ambry -- quest (sp) and mayo who have similar basic tests as well, but they also have more extensive tests for over 1500, as well as deletions and duplications.
 
R

Ratatosk

Administrator
Staff member
If they only tested for 100 or fewer mutations, then no, IMO it appears it was not adequate.

I believe there are some other companies similar to ambry -- quest (sp) and mayo who have similar basic tests as well, but they also have more extensive tests for over 1500, as well as deletions and duplications.
 
R

Ratatosk

Administrator
Staff member
If they only tested for 100 or fewer mutations, then no, IMO it appears it was not adequate.
<br />
<br />I believe there are some other companies similar to ambry -- quest (sp) and mayo who have similar basic tests as well, but they also have more extensive tests for over 1500, as well as deletions and duplications.
 
L

LouLou

New member
My son was tested with Genzyme for over 1000 mutations. You can call Genzyme and talk to them specifically about your son's order and how they comprehensively they tested him.
 
L

LouLou

New member
My son was tested with Genzyme for over 1000 mutations. You can call Genzyme and talk to them specifically about your son's order and how they comprehensively they tested him.
 
L

LouLou

New member
My son was tested with Genzyme for over 1000 mutations. You can call Genzyme and talk to them specifically about your son's order and how they comprehensively they tested him.
 
J

JennifersHope

New member
I had my genes tested at Mayo, they do the same testing, they found my second gene but were clueless what it meant??? No help what so ever. But Ambry never heard of it either. 100 genes is not enough, Hopefully the Nasal PD will be helpful, mine undiagnosed me after 10 year and now my health is in the toilet and I am awaiting our next move
 
J

JennifersHope

New member
I had my genes tested at Mayo, they do the same testing, they found my second gene but were clueless what it meant??? No help what so ever. But Ambry never heard of it either. 100 genes is not enough, Hopefully the Nasal PD will be helpful, mine undiagnosed me after 10 year and now my health is in the toilet and I am awaiting our next move
 
J

JennifersHope

New member
I had my genes tested at Mayo, they do the same testing, they found my second gene but were clueless what it meant??? No help what so ever. But Ambry never heard of it either. 100 genes is not enough, Hopefully the Nasal PD will be helpful, mine undiagnosed me after 10 year and now my health is in the toilet and I am awaiting our next move
 
J

jeannes

Guest
Thanks for all of the replies. I received a copy of the test results and understand them better now. Danny first has the CFplus 97 mutation test which was negative, then he did have full gene sequencing (98% of all known mutations) which showed benign variants (1716G>A, 2694T>G, 4521G>A) and poly T: 5T/7T. I am still not sure if Genzyme does the deletions and duplications (my doctor mentioned this months ago, but Genzyme's webpage does not say this and his results say that this does not tule out deletions or duplications)

Jenifer, I am sorry they chnaged your dx and you feel awful. I've read many articles about sodium channel mutations (ENaC) when combined with 0 or 1 CF mutation (or 5T) causes CF-like illness. Unfortunately ENaC testing is only done in research still. I plan to ask if Johns Hopkins can do this for my son. In 2 sweat tests his sodium numbers were much higher than his chloride (115).

Thanks again
 
J

jeannes

Guest
Thanks for all of the replies. I received a copy of the test results and understand them better now. Danny first has the CFplus 97 mutation test which was negative, then he did have full gene sequencing (98% of all known mutations) which showed benign variants (1716G>A, 2694T>G, 4521G>A) and poly T: 5T/7T. I am still not sure if Genzyme does the deletions and duplications (my doctor mentioned this months ago, but Genzyme's webpage does not say this and his results say that this does not tule out deletions or duplications)

Jenifer, I am sorry they chnaged your dx and you feel awful. I've read many articles about sodium channel mutations (ENaC) when combined with 0 or 1 CF mutation (or 5T) causes CF-like illness. Unfortunately ENaC testing is only done in research still. I plan to ask if Johns Hopkins can do this for my son. In 2 sweat tests his sodium numbers were much higher than his chloride (115).

Thanks again
 
J

jeannes

Guest
Thanks for all of the replies. I received a copy of the test results and understand them better now. Danny first has the CFplus 97 mutation test which was negative, then he did have full gene sequencing (98% of all known mutations) which showed benign variants (1716G>A, 2694T>G, 4521G>A) and poly T: 5T/7T. I am still not sure if Genzyme does the deletions and duplications (my doctor mentioned this months ago, but Genzyme's webpage does not say this and his results say that this does not tule out deletions or duplications)
<br />
<br />Jenifer, I am sorry they chnaged your dx and you feel awful. I've read many articles about sodium channel mutations (ENaC) when combined with 0 or 1 CF mutation (or 5T) causes CF-like illness. Unfortunately ENaC testing is only done in research still. I plan to ask if Johns Hopkins can do this for my son. In 2 sweat tests his sodium numbers were much higher than his chloride (115).
<br />
<br />Thanks again
 
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