Preparing for Pregnancy-Gene Testing

LouLou

New member
I'm so glad my post was helpful.

FYI my son Isaac passed newborn screening and the sweat test. Genetic testing revealed two cf mutations. I think it's a good idea for you to do EXTENSIVE genetic testing because of my own situation.

I believe Ambry and Genzyme both will only continue with more extensive testing if a more common mutation isn't found. Ambry does sequencing as well as tests for deletions which I can't speak to but can say this is the most thorough option out there.

Insurance definitely should cover the test. My odds of conceiving a cf child with my husband's negative to 89 mutations was still 1/500 so yours is probably something like 1/100 with no carrier testing in yoru spouse. Talk to a geneticist to verify these stats for your insurance letter.

Looking forward to hearing that he is negative as a carrier. Then you'll know that book can be closed for good!
 

LouLou

New member
I'm so glad my post was helpful.

FYI my son Isaac passed newborn screening and the sweat test. Genetic testing revealed two cf mutations. I think it's a good idea for you to do EXTENSIVE genetic testing because of my own situation.

I believe Ambry and Genzyme both will only continue with more extensive testing if a more common mutation isn't found. Ambry does sequencing as well as tests for deletions which I can't speak to but can say this is the most thorough option out there.

Insurance definitely should cover the test. My odds of conceiving a cf child with my husband's negative to 89 mutations was still 1/500 so yours is probably something like 1/100 with no carrier testing in yoru spouse. Talk to a geneticist to verify these stats for your insurance letter.

Looking forward to hearing that he is negative as a carrier. Then you'll know that book can be closed for good!
 

LouLou

New member
I'm so glad my post was helpful.

FYI my son Isaac passed newborn screening and the sweat test. Genetic testing revealed two cf mutations. I think it's a good idea for you to do EXTENSIVE genetic testing because of my own situation.

I believe Ambry and Genzyme both will only continue with more extensive testing if a more common mutation isn't found. Ambry does sequencing as well as tests for deletions which I can't speak to but can say this is the most thorough option out there.

Insurance definitely should cover the test. My odds of conceiving a cf child with my husband's negative to 89 mutations was still 1/500 so yours is probably something like 1/100 with no carrier testing in yoru spouse. Talk to a geneticist to verify these stats for your insurance letter.

Looking forward to hearing that he is negative as a carrier. Then you'll know that book can be closed for good!
 

LouLou

New member
I'm so glad my post was helpful.

FYI my son Isaac passed newborn screening and the sweat test. Genetic testing revealed two cf mutations. I think it's a good idea for you to do EXTENSIVE genetic testing because of my own situation.

I believe Ambry and Genzyme both will only continue with more extensive testing if a more common mutation isn't found. Ambry does sequencing as well as tests for deletions which I can't speak to but can say this is the most thorough option out there.

Insurance definitely should cover the test. My odds of conceiving a cf child with my husband's negative to 89 mutations was still 1/500 so yours is probably something like 1/100 with no carrier testing in yoru spouse. Talk to a geneticist to verify these stats for your insurance letter.

Looking forward to hearing that he is negative as a carrier. Then you'll know that book can be closed for good!
 

LouLou

New member
I'm so glad my post was helpful.
<br />
<br />FYI my son Isaac passed newborn screening and the sweat test. Genetic testing revealed two cf mutations. I think it's a good idea for you to do EXTENSIVE genetic testing because of my own situation.
<br />
<br />I believe Ambry and Genzyme both will only continue with more extensive testing if a more common mutation isn't found. Ambry does sequencing as well as tests for deletions which I can't speak to but can say this is the most thorough option out there.
<br />
<br />Insurance definitely should cover the test. My odds of conceiving a cf child with my husband's negative to 89 mutations was still 1/500 so yours is probably something like 1/100 with no carrier testing in yoru spouse. Talk to a geneticist to verify these stats for your insurance letter.
<br />
<br />Looking forward to hearing that he is negative as a carrier. Then you'll know that book can be closed for good!
 

austinchick

New member
Thank you all so much! You give me hope. I went to clinic today and my doc is going to write that letter for me. I know it will all work out. Lou Lou, so does that mean your son just has the carrier gene? I am sorry to pry.
 

austinchick

New member
Thank you all so much! You give me hope. I went to clinic today and my doc is going to write that letter for me. I know it will all work out. Lou Lou, so does that mean your son just has the carrier gene? I am sorry to pry.
 

austinchick

New member
Thank you all so much! You give me hope. I went to clinic today and my doc is going to write that letter for me. I know it will all work out. Lou Lou, so does that mean your son just has the carrier gene? I am sorry to pry.
 

austinchick

New member
Thank you all so much! You give me hope. I went to clinic today and my doc is going to write that letter for me. I know it will all work out. Lou Lou, so does that mean your son just has the carrier gene? I am sorry to pry.
 

austinchick

New member
Thank you all so much! You give me hope. I went to clinic today and my doc is going to write that letter for me. I know it will all work out. Lou Lou, so does that mean your son just has the carrier gene? I am sorry to pry.
 

LouLou

New member
No, he has two mutations of the cf gene so he has cf but he presently has no symptoms. We hope that he won't ever :)
 

LouLou

New member
No, he has two mutations of the cf gene so he has cf but he presently has no symptoms. We hope that he won't ever :)
 

LouLou

New member
No, he has two mutations of the cf gene so he has cf but he presently has no symptoms. We hope that he won't ever :)
 

LouLou

New member
No, he has two mutations of the cf gene so he has cf but he presently has no symptoms. We hope that he won't ever :)
 

LouLou

New member
No, he has two mutations of the cf gene so he has cf but he presently has no symptoms. We hope that he won't ever :)
 

austinchick

New member
Oh well that's good, I bet he won't! I have one less common mutation which I think has kept me pretty healthy. It wasn't even identified on my mom until 2001 when my sister was having a baby and they both wanted to get tested. My did doesn't have cf but she has the carrier gene that my mom has. My Sis doesn't have cf. My dad has the common mutation so they were able to diagnose me based on symptoms and that.
 

austinchick

New member
Oh well that's good, I bet he won't! I have one less common mutation which I think has kept me pretty healthy. It wasn't even identified on my mom until 2001 when my sister was having a baby and they both wanted to get tested. My did doesn't have cf but she has the carrier gene that my mom has. My Sis doesn't have cf. My dad has the common mutation so they were able to diagnose me based on symptoms and that.
 

austinchick

New member
Oh well that's good, I bet he won't! I have one less common mutation which I think has kept me pretty healthy. It wasn't even identified on my mom until 2001 when my sister was having a baby and they both wanted to get tested. My did doesn't have cf but she has the carrier gene that my mom has. My Sis doesn't have cf. My dad has the common mutation so they were able to diagnose me based on symptoms and that.
 

austinchick

New member
Oh well that's good, I bet he won't! I have one less common mutation which I think has kept me pretty healthy. It wasn't even identified on my mom until 2001 when my sister was having a baby and they both wanted to get tested. My did doesn't have cf but she has the carrier gene that my mom has. My Sis doesn't have cf. My dad has the common mutation so they were able to diagnose me based on symptoms and that.
 

austinchick

New member
Oh well that's good, I bet he won't! I have one less common mutation which I think has kept me pretty healthy. It wasn't even identified on my mom until 2001 when my sister was having a baby and they both wanted to get tested. My did doesn't have cf but she has the carrier gene that my mom has. My Sis doesn't have cf. My dad has the common mutation so they were able to diagnose me based on symptoms and that.
 
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