Strange genetic test results

H

hmw

New member
What?? I would not be happy with that at all. I would ask for a copy of the actual lab report. I'm so sorry you were given such an incomplete answer. <img src="i/expressions/face-icon-small-sad.gif" border="0">

ok- completely editing my post after seeing yours. 90 mutation panel is REALLY inconclusive. He needs the REAL test (Ambry Amplified.) There are over 1,500 mutations that can cause cf. If they say 'low to moderate' I have the feeling they *may* have found one mutation...? but that is speculation on my part... I assume if they found NO mutations it would say something like 'low probability.' I really don't know. I can't believe they didn't TELL YOU. Anyway, you need to see the actual report.

Another sweat test may be all well and good, but now he needs the 'real' gene test. And you DID do the right thing... you took him to drs you trusted... please don't beat yourself up there. You did not know anything else to do when they ordered the test.

I'm so sorry you are going through this pain now. <img src="i/expressions/brokenheart.gif" border="0">
 
H

hmw

New member
What?? I would not be happy with that at all. I would ask for a copy of the actual lab report. I'm so sorry you were given such an incomplete answer. <img src="i/expressions/face-icon-small-sad.gif" border="0">

ok- completely editing my post after seeing yours. 90 mutation panel is REALLY inconclusive. He needs the REAL test (Ambry Amplified.) There are over 1,500 mutations that can cause cf. If they say 'low to moderate' I have the feeling they *may* have found one mutation...? but that is speculation on my part... I assume if they found NO mutations it would say something like 'low probability.' I really don't know. I can't believe they didn't TELL YOU. Anyway, you need to see the actual report.

Another sweat test may be all well and good, but now he needs the 'real' gene test. And you DID do the right thing... you took him to drs you trusted... please don't beat yourself up there. You did not know anything else to do when they ordered the test.

I'm so sorry you are going through this pain now. <img src="i/expressions/brokenheart.gif" border="0">
 
H

hmw

New member
What?? I would not be happy with that at all. I would ask for a copy of the actual lab report. I'm so sorry you were given such an incomplete answer. <img src="i/expressions/face-icon-small-sad.gif" border="0">

ok- completely editing my post after seeing yours. 90 mutation panel is REALLY inconclusive. He needs the REAL test (Ambry Amplified.) There are over 1,500 mutations that can cause cf. If they say 'low to moderate' I have the feeling they *may* have found one mutation...? but that is speculation on my part... I assume if they found NO mutations it would say something like 'low probability.' I really don't know. I can't believe they didn't TELL YOU. Anyway, you need to see the actual report.

Another sweat test may be all well and good, but now he needs the 'real' gene test. And you DID do the right thing... you took him to drs you trusted... please don't beat yourself up there. You did not know anything else to do when they ordered the test.

I'm so sorry you are going through this pain now. <img src="i/expressions/brokenheart.gif" border="0">
 
H

hmw

New member
What?? I would not be happy with that at all. I would ask for a copy of the actual lab report. I'm so sorry you were given such an incomplete answer. <img src="i/expressions/face-icon-small-sad.gif" border="0">

ok- completely editing my post after seeing yours. 90 mutation panel is REALLY inconclusive. He needs the REAL test (Ambry Amplified.) There are over 1,500 mutations that can cause cf. If they say 'low to moderate' I have the feeling they *may* have found one mutation...? but that is speculation on my part... I assume if they found NO mutations it would say something like 'low probability.' I really don't know. I can't believe they didn't TELL YOU. Anyway, you need to see the actual report.

Another sweat test may be all well and good, but now he needs the 'real' gene test. And you DID do the right thing... you took him to drs you trusted... please don't beat yourself up there. You did not know anything else to do when they ordered the test.

I'm so sorry you are going through this pain now. <img src="i/expressions/brokenheart.gif" border="0">
 
H

hmw

New member
What?? I would not be happy with that at all. I would ask for a copy of the actual lab report. I'm so sorry you were given such an incomplete answer. <img src="i/expressions/face-icon-small-sad.gif" border="0">
<br />
<br />ok- completely editing my post after seeing yours. 90 mutation panel is REALLY inconclusive. He needs the REAL test (Ambry Amplified.) There are over 1,500 mutations that can cause cf. If they say 'low to moderate' I have the feeling they *may* have found one mutation...? but that is speculation on my part... I assume if they found NO mutations it would say something like 'low probability.' I really don't know. I can't believe they didn't TELL YOU. Anyway, you need to see the actual report.
<br />
<br />Another sweat test may be all well and good, but now he needs the 'real' gene test. And you DID do the right thing... you took him to drs you trusted... please don't beat yourself up there. You did not know anything else to do when they ordered the test.
<br />
<br />I'm so sorry you are going through this pain now. <img src="i/expressions/brokenheart.gif" border="0">
<br />
<br />
 
A

antonette1279

New member
I feel like I am not doing enough for my little guy but I dont even know what else I can do. I have gone back and forth with the doctors and I just made a million calls....no one that I call seems to care too much and I just dont know what else to do
 
A

antonette1279

New member
I feel like I am not doing enough for my little guy but I dont even know what else I can do. I have gone back and forth with the doctors and I just made a million calls....no one that I call seems to care too much and I just dont know what else to do
 
A

antonette1279

New member
I feel like I am not doing enough for my little guy but I dont even know what else I can do. I have gone back and forth with the doctors and I just made a million calls....no one that I call seems to care too much and I just dont know what else to do
 
A

antonette1279

New member
I feel like I am not doing enough for my little guy but I dont even know what else I can do. I have gone back and forth with the doctors and I just made a million calls....no one that I call seems to care too much and I just dont know what else to do
 
A

antonette1279

New member
I feel like I am not doing enough for my little guy but I dont even know what else I can do. I have gone back and forth with the doctors and I just made a million calls....no one that I call seems to care too much and I just dont know what else to do
 
R

Ratatosk

Administrator
Staff member
Since they only tested for 90 mutations, I would ask them to do more extensive testing. Ambry amplified. As Harriet mentioned there are over 1500 mutations for CF. You are the customer and are PAYING for those appointments, so if they refuse to do more extensive testing, ask them to put it in your son's chart that you requested more testing and that they declined because....

It's my understanding that any doctor can request genetic testing.
 
R

Ratatosk

Administrator
Staff member
Since they only tested for 90 mutations, I would ask them to do more extensive testing. Ambry amplified. As Harriet mentioned there are over 1500 mutations for CF. You are the customer and are PAYING for those appointments, so if they refuse to do more extensive testing, ask them to put it in your son's chart that you requested more testing and that they declined because....

It's my understanding that any doctor can request genetic testing.
 
R

Ratatosk

Administrator
Staff member
Since they only tested for 90 mutations, I would ask them to do more extensive testing. Ambry amplified. As Harriet mentioned there are over 1500 mutations for CF. You are the customer and are PAYING for those appointments, so if they refuse to do more extensive testing, ask them to put it in your son's chart that you requested more testing and that they declined because....

It's my understanding that any doctor can request genetic testing.
 
R

Ratatosk

Administrator
Staff member
Since they only tested for 90 mutations, I would ask them to do more extensive testing. Ambry amplified. As Harriet mentioned there are over 1500 mutations for CF. You are the customer and are PAYING for those appointments, so if they refuse to do more extensive testing, ask them to put it in your son's chart that you requested more testing and that they declined because....

It's my understanding that any doctor can request genetic testing.
 
R

Ratatosk

Administrator
Staff member
Since they only tested for 90 mutations, I would ask them to do more extensive testing. Ambry amplified. As Harriet mentioned there are over 1500 mutations for CF. You are the customer and are PAYING for those appointments, so if they refuse to do more extensive testing, ask them to put it in your son's chart that you requested more testing and that they declined because....
<br />
<br />It's my understanding that any doctor can request genetic testing.
 
H

hmw

New member
I am so sorry you are going through this. I edited my above post since I hadn't seen your second post when I first wrote it...

I would be really hurting if I was you, too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> At this point, I would want a couple main things:

1. A copy of the panel test report- to find out what exactly 'low to moderate' really means. How cryptic & frustrating!

2. Get orders from the ped or whoever will listen to you for the 'Ambry Amplified' for CF. If the ped says no, tell him a panel has given him 'moderate' odds for cf and you'd like it noted in his chart that he is refusing the test anyway. (eta> haha, I see Liza and I were thinking alike on that one! She is absolutely right though: you are the consumer here.) Steve (check the Ambry thread here) can help you via pm in getting the kit ordered; any lab can do the kit for you.

3. If you've had it with the runaround you've been getting... take the recommendation for the repeat sweat test to an entirely NEW accredited CF center, if you have the option to do so... fresh eyes may make a difference for a new workup for your little boy.
 
H

hmw

New member
I am so sorry you are going through this. I edited my above post since I hadn't seen your second post when I first wrote it...

I would be really hurting if I was you, too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> At this point, I would want a couple main things:

1. A copy of the panel test report- to find out what exactly 'low to moderate' really means. How cryptic & frustrating!

2. Get orders from the ped or whoever will listen to you for the 'Ambry Amplified' for CF. If the ped says no, tell him a panel has given him 'moderate' odds for cf and you'd like it noted in his chart that he is refusing the test anyway. (eta> haha, I see Liza and I were thinking alike on that one! She is absolutely right though: you are the consumer here.) Steve (check the Ambry thread here) can help you via pm in getting the kit ordered; any lab can do the kit for you.

3. If you've had it with the runaround you've been getting... take the recommendation for the repeat sweat test to an entirely NEW accredited CF center, if you have the option to do so... fresh eyes may make a difference for a new workup for your little boy.
 
H

hmw

New member
I am so sorry you are going through this. I edited my above post since I hadn't seen your second post when I first wrote it...

I would be really hurting if I was you, too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> At this point, I would want a couple main things:

1. A copy of the panel test report- to find out what exactly 'low to moderate' really means. How cryptic & frustrating!

2. Get orders from the ped or whoever will listen to you for the 'Ambry Amplified' for CF. If the ped says no, tell him a panel has given him 'moderate' odds for cf and you'd like it noted in his chart that he is refusing the test anyway. (eta> haha, I see Liza and I were thinking alike on that one! She is absolutely right though: you are the consumer here.) Steve (check the Ambry thread here) can help you via pm in getting the kit ordered; any lab can do the kit for you.

3. If you've had it with the runaround you've been getting... take the recommendation for the repeat sweat test to an entirely NEW accredited CF center, if you have the option to do so... fresh eyes may make a difference for a new workup for your little boy.
 
H

hmw

New member
I am so sorry you are going through this. I edited my above post since I hadn't seen your second post when I first wrote it...

I would be really hurting if I was you, too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> At this point, I would want a couple main things:

1. A copy of the panel test report- to find out what exactly 'low to moderate' really means. How cryptic & frustrating!

2. Get orders from the ped or whoever will listen to you for the 'Ambry Amplified' for CF. If the ped says no, tell him a panel has given him 'moderate' odds for cf and you'd like it noted in his chart that he is refusing the test anyway. (eta> haha, I see Liza and I were thinking alike on that one! She is absolutely right though: you are the consumer here.) Steve (check the Ambry thread here) can help you via pm in getting the kit ordered; any lab can do the kit for you.

3. If you've had it with the runaround you've been getting... take the recommendation for the repeat sweat test to an entirely NEW accredited CF center, if you have the option to do so... fresh eyes may make a difference for a new workup for your little boy.
 
H

hmw

New member
I am so sorry you are going through this. I edited my above post since I hadn't seen your second post when I first wrote it...
<br />
<br />I would be really hurting if I was you, too. <img src="i/expressions/face-icon-small-sad.gif" border="0"> At this point, I would want a couple main things:
<br />
<br />1. A copy of the panel test report- to find out what exactly 'low to moderate' really means. How cryptic & frustrating!
<br />
<br />2. Get orders from the ped or whoever will listen to you for the 'Ambry Amplified' for CF. If the ped says no, tell him a panel has given him 'moderate' odds for cf and you'd like it noted in his chart that he is refusing the test anyway. (eta> haha, I see Liza and I were thinking alike on that one! She is absolutely right though: you are the consumer here.) Steve (check the Ambry thread here) can help you via pm in getting the kit ordered; any lab can do the kit for you.
<br />
<br />3. If you've had it with the runaround you've been getting... take the recommendation for the repeat sweat test to an entirely NEW accredited CF center, if you have the option to do so... fresh eyes may make a difference for a new workup for your little boy.
 
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