Genetic testing

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>kchat17</b></i>

Did anyone get tested and come back negative only to have a child with CF?</end quote></div>

Yep.
DH had a panel of 89 mutations in '04 come up negative. We knew we were rolling the dice. We thought our chances were really slim. Once we conceived they told us 0.02% chance (1 in 500) that we would conceive a cfer. We were surprised. Sounded pretty plausible. After Isaac was born he was sweat tested and genetic tested at 3 mo. No one was in a hurry for this testing except me. I wasn't up for taking him until then that's why it happened at 3 mo. Sweat test was negative and genetic turned up 2 mutations. So far he is asymptomatic in every way possible. They say the combo of mutations liklely causes mild lung involvement and increased chance of pancreatitis due to PS. They (the medical world/journals) have not ruled out that this combo could result in a think it's called a phenotype. What I'm trying to say is a person that never shows symptoms.

If you have ad'l questions please feel free to PM me.

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>kchat17</b></i>

Did anyone get tested and come back negative only to have a child with CF?</end quote></div>

Yep.
DH had a panel of 89 mutations in '04 come up negative. We knew we were rolling the dice. We thought our chances were really slim. Once we conceived they told us 0.02% chance (1 in 500) that we would conceive a cfer. We were surprised. Sounded pretty plausible. After Isaac was born he was sweat tested and genetic tested at 3 mo. No one was in a hurry for this testing except me. I wasn't up for taking him until then that's why it happened at 3 mo. Sweat test was negative and genetic turned up 2 mutations. So far he is asymptomatic in every way possible. They say the combo of mutations liklely causes mild lung involvement and increased chance of pancreatitis due to PS. They (the medical world/journals) have not ruled out that this combo could result in a think it's called a phenotype. What I'm trying to say is a person that never shows symptoms.

If you have ad'l questions please feel free to PM me.

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>kchat17</b></i>

Did anyone get tested and come back negative only to have a child with CF?</end quote></div>

Yep.
DH had a panel of 89 mutations in '04 come up negative. We knew we were rolling the dice. We thought our chances were really slim. Once we conceived they told us 0.02% chance (1 in 500) that we would conceive a cfer. We were surprised. Sounded pretty plausible. After Isaac was born he was sweat tested and genetic tested at 3 mo. No one was in a hurry for this testing except me. I wasn't up for taking him until then that's why it happened at 3 mo. Sweat test was negative and genetic turned up 2 mutations. So far he is asymptomatic in every way possible. They say the combo of mutations liklely causes mild lung involvement and increased chance of pancreatitis due to PS. They (the medical world/journals) have not ruled out that this combo could result in a think it's called a phenotype. What I'm trying to say is a person that never shows symptoms.

If you have ad'l questions please feel free to PM me.

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>kchat17</b></i>

Did anyone get tested and come back negative only to have a child with CF?</end quote>

Yep.
DH had a panel of 89 mutations in '04 come up negative. We knew we were rolling the dice. We thought our chances were really slim. Once we conceived they told us 0.02% chance (1 in 500) that we would conceive a cfer. We were surprised. Sounded pretty plausible. After Isaac was born he was sweat tested and genetic tested at 3 mo. No one was in a hurry for this testing except me. I wasn't up for taking him until then that's why it happened at 3 mo. Sweat test was negative and genetic turned up 2 mutations. So far he is asymptomatic in every way possible. They say the combo of mutations liklely causes mild lung involvement and increased chance of pancreatitis due to PS. They (the medical world/journals) have not ruled out that this combo could result in a think it's called a phenotype. What I'm trying to say is a person that never shows symptoms.

If you have ad'l questions please feel free to PM me.

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>kchat17</b></i>

Did anyone get tested and come back negative only to have a child with CF?</end quote>

Yep.
DH had a panel of 89 mutations in '04 come up negative. We knew we were rolling the dice. We thought our chances were really slim. Once we conceived they told us 0.02% chance (1 in 500) that we would conceive a cfer. We were surprised. Sounded pretty plausible. After Isaac was born he was sweat tested and genetic tested at 3 mo. No one was in a hurry for this testing except me. I wasn't up for taking him until then that's why it happened at 3 mo. Sweat test was negative and genetic turned up 2 mutations. So far he is asymptomatic in every way possible. They say the combo of mutations liklely causes mild lung involvement and increased chance of pancreatitis due to PS. They (the medical world/journals) have not ruled out that this combo could result in a think it's called a phenotype. What I'm trying to say is a person that never shows symptoms.

If you have ad'l questions please feel free to PM me.

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>semperfiohana</b></i>

full panel screen</end quote></div>

My understanding is there in no such thing. Either a person is screened for a panel which maxes out at a few 100 mutations or is sequenced for 1000+ mutations. So in other words when we are giving people advice about what test to get if they are looking for the most conclusive test don't use the word "panel." Say the Ambry Test or gene sequencing. Either way they should be tested for over 1000+ mutations...preferably over 1300. Ambry leads the way and Quest and Genzyme are also offering sequencing.

Candice, with this knowledge do you know if your husband was sequenced? Do you have a copy of his results?

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>semperfiohana</b></i>

full panel screen</end quote></div>

My understanding is there in no such thing. Either a person is screened for a panel which maxes out at a few 100 mutations or is sequenced for 1000+ mutations. So in other words when we are giving people advice about what test to get if they are looking for the most conclusive test don't use the word "panel." Say the Ambry Test or gene sequencing. Either way they should be tested for over 1000+ mutations...preferably over 1300. Ambry leads the way and Quest and Genzyme are also offering sequencing.

Candice, with this knowledge do you know if your husband was sequenced? Do you have a copy of his results?

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>semperfiohana</b></i>

full panel screen</end quote></div>

My understanding is there in no such thing. Either a person is screened for a panel which maxes out at a few 100 mutations or is sequenced for 1000+ mutations. So in other words when we are giving people advice about what test to get if they are looking for the most conclusive test don't use the word "panel." Say the Ambry Test or gene sequencing. Either way they should be tested for over 1000+ mutations...preferably over 1300. Ambry leads the way and Quest and Genzyme are also offering sequencing.

Candice, with this knowledge do you know if your husband was sequenced? Do you have a copy of his results?

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>semperfiohana</b></i>

full panel screen</end quote>

My understanding is there in no such thing. Either a person is screened for a panel which maxes out at a few 100 mutations or is sequenced for 1000+ mutations. So in other words when we are giving people advice about what test to get if they are looking for the most conclusive test don't use the word "panel." Say the Ambry Test or gene sequencing. Either way they should be tested for over 1000+ mutations...preferably over 1300. Ambry leads the way and Quest and Genzyme are also offering sequencing.

Candice, with this knowledge do you know if your husband was sequenced? Do you have a copy of his results?

 

[LouLou]

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>semperfiohana</b></i>

full panel screen</end quote>

My understanding is there in no such thing. Either a person is screened for a panel which maxes out at a few 100 mutations or is sequenced for 1000+ mutations. So in other words when we are giving people advice about what test to get if they are looking for the most conclusive test don't use the word "panel." Say the Ambry Test or gene sequencing. Either way they should be tested for over 1000+ mutations...preferably over 1300. Ambry leads the way and Quest and Genzyme are also offering sequencing.

Candice, with this knowledge do you know if your husband was sequenced? Do you have a copy of his results?

 

[julie]

We did the most common panel first. But it just didn't sit right with me....so we got the Ambry genetic test done (LONG before they were a part of this board, but SO glad they are here!!!!) for about 1,500 known mutations. My ins. covered all of it.

 

[julie]

We did the most common panel first. But it just didn't sit right with me....so we got the Ambry genetic test done (LONG before they were a part of this board, but SO glad they are here!!!!) for about 1,500 known mutations. My ins. covered all of it.

 

[julie]

We did the most common panel first. But it just didn't sit right with me....so we got the Ambry genetic test done (LONG before they were a part of this board, but SO glad they are here!!!!) for about 1,500 known mutations. My ins. covered all of it.

 

[julie]

We did the most common panel first. But it just didn't sit right with me....so we got the Ambry genetic test done (LONG before they were a part of this board, but SO glad they are here!!!!) for about 1,500 known mutations. My ins. covered all of it.

 

[julie]

We did the most common panel first. But it just didn't sit right with me....so we got the Ambry genetic test done (LONG before they were a part of this board, but SO glad they are here!!!!) for about 1,500 known mutations. My ins. covered all of it.

 

[Keepercjr]

Lauren

Sorry - you're right. He was sequenced through Ambry. I wasn't using my terms correctly. Ambry was the one that found my rare mutation. Before they offered their CF test on the market, they were testing CF patients for free who had either 1 unknown mutation or 2 unknown mutations (but with a + sweat test). So I found out about it and they sequenced me and found my gene.

I just asked my DH for the copy of his CF screening and here is what it says:

"No known deleterious mutations were detected
No novel variations were detected
The results of this test indicate this patient was found to carry the 7T/7T poly T variant" and right next to that the genetic counselor wrote "normal" HTH!

 

[Keepercjr]

Lauren

Sorry - you're right. He was sequenced through Ambry. I wasn't using my terms correctly. Ambry was the one that found my rare mutation. Before they offered their CF test on the market, they were testing CF patients for free who had either 1 unknown mutation or 2 unknown mutations (but with a + sweat test). So I found out about it and they sequenced me and found my gene.

I just asked my DH for the copy of his CF screening and here is what it says:

"No known deleterious mutations were detected
No novel variations were detected
The results of this test indicate this patient was found to carry the 7T/7T poly T variant" and right next to that the genetic counselor wrote "normal" HTH!

 

[Keepercjr]

Lauren

Sorry - you're right. He was sequenced through Ambry. I wasn't using my terms correctly. Ambry was the one that found my rare mutation. Before they offered their CF test on the market, they were testing CF patients for free who had either 1 unknown mutation or 2 unknown mutations (but with a + sweat test). So I found out about it and they sequenced me and found my gene.

I just asked my DH for the copy of his CF screening and here is what it says:

"No known deleterious mutations were detected
No novel variations were detected
The results of this test indicate this patient was found to carry the 7T/7T poly T variant" and right next to that the genetic counselor wrote "normal" HTH!

 

[Keepercjr]

Lauren

Sorry - you're right. He was sequenced through Ambry. I wasn't using my terms correctly. Ambry was the one that found my rare mutation. Before they offered their CF test on the market, they were testing CF patients for free who had either 1 unknown mutation or 2 unknown mutations (but with a + sweat test). So I found out about it and they sequenced me and found my gene.

I just asked my DH for the copy of his CF screening and here is what it says:

"No known deleterious mutations were detected
No novel variations were detected
The results of this test indicate this patient was found to carry the 7T/7T poly T variant" and right next to that the genetic counselor wrote "normal" HTH!

 

[Keepercjr]

Lauren

Sorry - you're right. He was sequenced through Ambry. I wasn't using my terms correctly. Ambry was the one that found my rare mutation. Before they offered their CF test on the market, they were testing CF patients for free who had either 1 unknown mutation or 2 unknown mutations (but with a + sweat test). So I found out about it and they sequenced me and found my gene.

I just asked my DH for the copy of his CF screening and here is what it says:

"No known deleterious mutations were detected
No novel variations were detected
The results of this test indicate this patient was found to carry the 7T/7T poly T variant" and right next to that the genetic counselor wrote "normal" HTH!