Genetic Testing

L

Littlemiss

New member
Hi,

I am new to the CF Forums..

I have a few questions about what genetic tests people's partners have had. Before we got married my husband got tested for all the common mutations and came back negative, but now that we are thinking of having a family I am wondering if there is another test that can rule out more mutations?

If there is such a test does it have a name so I can ask specifically for it?

Also, if there is anyone out there who is in Australia, is the test covered by Medicare or if not how much does it cost?

Thanks Everyone

AJ :)
 
L

Littlemiss

New member
Hi,

I am new to the CF Forums..

I have a few questions about what genetic tests people's partners have had. Before we got married my husband got tested for all the common mutations and came back negative, but now that we are thinking of having a family I am wondering if there is another test that can rule out more mutations?

If there is such a test does it have a name so I can ask specifically for it?

Also, if there is anyone out there who is in Australia, is the test covered by Medicare or if not how much does it cost?

Thanks Everyone

AJ :)
 
L

Littlemiss

New member
Hi,

I am new to the CF Forums..

I have a few questions about what genetic tests people's partners have had. Before we got married my husband got tested for all the common mutations and came back negative, but now that we are thinking of having a family I am wondering if there is another test that can rule out more mutations?

If there is such a test does it have a name so I can ask specifically for it?

Also, if there is anyone out there who is in Australia, is the test covered by Medicare or if not how much does it cost?

Thanks Everyone

AJ :)
 
L

Littlemiss

New member
Hi,

I am new to the CF Forums..

I have a few questions about what genetic tests people's partners have had. Before we got married my husband got tested for all the common mutations and came back negative, but now that we are thinking of having a family I am wondering if there is another test that can rule out more mutations?

If there is such a test does it have a name so I can ask specifically for it?

Also, if there is anyone out there who is in Australia, is the test covered by Medicare or if not how much does it cost?

Thanks Everyone

AJ :)
 
L

Littlemiss

New member
Hi,
<br />
<br />I am new to the CF Forums..
<br />
<br />I have a few questions about what genetic tests people's partners have had. Before we got married my husband got tested for all the common mutations and came back negative, but now that we are thinking of having a family I am wondering if there is another test that can rule out more mutations?
<br />
<br />If there is such a test does it have a name so I can ask specifically for it?
<br />
<br />Also, if there is anyone out there who is in Australia, is the test covered by Medicare or if not how much does it cost?
<br />
<br />Thanks Everyone
<br />
<br />AJ :)
 
L

LouLou

New member
Ambry Genetics is the leader in cf genetic testing. What you want to look for is a test that includes over 1000 mutations and preferably sequences rather than panel tests. Genzyme also tests for over 1000 mutations.

I also have G551D and DF508 and so does Candice (semperfiohana). My dh only was tested for the 95% of the most common mutations prior to conception of my son. As it turned out my son got a second mutation (1 in 500 chance) from dad after all that was discovered when we Genzyme tested him after birth. It's the case with a few of us on here, most of our children are assymptomatic or very mild so that's something to consider. In hindsight, I'm so glad the worry of cf didn't jade my pregnancy.

On a side note, I participated in the Vertex VX-770 trial this summer and those of us with G551D really have something to look forward to. It was amazing!
 
L

LouLou

New member
Ambry Genetics is the leader in cf genetic testing. What you want to look for is a test that includes over 1000 mutations and preferably sequences rather than panel tests. Genzyme also tests for over 1000 mutations.

I also have G551D and DF508 and so does Candice (semperfiohana). My dh only was tested for the 95% of the most common mutations prior to conception of my son. As it turned out my son got a second mutation (1 in 500 chance) from dad after all that was discovered when we Genzyme tested him after birth. It's the case with a few of us on here, most of our children are assymptomatic or very mild so that's something to consider. In hindsight, I'm so glad the worry of cf didn't jade my pregnancy.

On a side note, I participated in the Vertex VX-770 trial this summer and those of us with G551D really have something to look forward to. It was amazing!
 
L

LouLou

New member
Ambry Genetics is the leader in cf genetic testing. What you want to look for is a test that includes over 1000 mutations and preferably sequences rather than panel tests. Genzyme also tests for over 1000 mutations.

I also have G551D and DF508 and so does Candice (semperfiohana). My dh only was tested for the 95% of the most common mutations prior to conception of my son. As it turned out my son got a second mutation (1 in 500 chance) from dad after all that was discovered when we Genzyme tested him after birth. It's the case with a few of us on here, most of our children are assymptomatic or very mild so that's something to consider. In hindsight, I'm so glad the worry of cf didn't jade my pregnancy.

On a side note, I participated in the Vertex VX-770 trial this summer and those of us with G551D really have something to look forward to. It was amazing!
 
L

LouLou

New member
Ambry Genetics is the leader in cf genetic testing. What you want to look for is a test that includes over 1000 mutations and preferably sequences rather than panel tests. Genzyme also tests for over 1000 mutations.

I also have G551D and DF508 and so does Candice (semperfiohana). My dh only was tested for the 95% of the most common mutations prior to conception of my son. As it turned out my son got a second mutation (1 in 500 chance) from dad after all that was discovered when we Genzyme tested him after birth. It's the case with a few of us on here, most of our children are assymptomatic or very mild so that's something to consider. In hindsight, I'm so glad the worry of cf didn't jade my pregnancy.

On a side note, I participated in the Vertex VX-770 trial this summer and those of us with G551D really have something to look forward to. It was amazing!
 
L

LouLou

New member
Ambry Genetics is the leader in cf genetic testing. What you want to look for is a test that includes over 1000 mutations and preferably sequences rather than panel tests. Genzyme also tests for over 1000 mutations.
<br />
<br />I also have G551D and DF508 and so does Candice (semperfiohana). My dh only was tested for the 95% of the most common mutations prior to conception of my son. As it turned out my son got a second mutation (1 in 500 chance) from dad after all that was discovered when we Genzyme tested him after birth. It's the case with a few of us on here, most of our children are assymptomatic or very mild so that's something to consider. In hindsight, I'm so glad the worry of cf didn't jade my pregnancy.
<br />
<br />On a side note, I participated in the Vertex VX-770 trial this summer and those of us with G551D really have something to look forward to. It was amazing!
 
J

julie

New member
I'd go with ambry genetics, www.ambrygen.com They are a sponsor for this site, but that has nothing to do with my recommendation.

I had a 25 mutation panel done about 5 years ago, and a few months afer that I did a more comprehenzive 87 mutation panel through genzyme. But I wasn't satisified knowing there were over 1,000 (at that time) and I was being tested for less than 100 of them. This was prior to Mark and I doing In Vitro.

So I talked to his doctor and did some research on all of the CF sites I've even been on....ambry genetic was the most advanced (and still is to my knowledge).

I did the ambry test, which my insurance covered, and I wasn't a carrier for any of the 1000+ mutations that they tested for. I would HIGHLY recommend you consider them!
 
J

julie

New member
I'd go with ambry genetics, www.ambrygen.com They are a sponsor for this site, but that has nothing to do with my recommendation.

I had a 25 mutation panel done about 5 years ago, and a few months afer that I did a more comprehenzive 87 mutation panel through genzyme. But I wasn't satisified knowing there were over 1,000 (at that time) and I was being tested for less than 100 of them. This was prior to Mark and I doing In Vitro.

So I talked to his doctor and did some research on all of the CF sites I've even been on....ambry genetic was the most advanced (and still is to my knowledge).

I did the ambry test, which my insurance covered, and I wasn't a carrier for any of the 1000+ mutations that they tested for. I would HIGHLY recommend you consider them!
 
J

julie

New member
I'd go with ambry genetics, www.ambrygen.com They are a sponsor for this site, but that has nothing to do with my recommendation.

I had a 25 mutation panel done about 5 years ago, and a few months afer that I did a more comprehenzive 87 mutation panel through genzyme. But I wasn't satisified knowing there were over 1,000 (at that time) and I was being tested for less than 100 of them. This was prior to Mark and I doing In Vitro.

So I talked to his doctor and did some research on all of the CF sites I've even been on....ambry genetic was the most advanced (and still is to my knowledge).

I did the ambry test, which my insurance covered, and I wasn't a carrier for any of the 1000+ mutations that they tested for. I would HIGHLY recommend you consider them!
 
J

julie

New member
I'd go with ambry genetics, www.ambrygen.com They are a sponsor for this site, but that has nothing to do with my recommendation.

I had a 25 mutation panel done about 5 years ago, and a few months afer that I did a more comprehenzive 87 mutation panel through genzyme. But I wasn't satisified knowing there were over 1,000 (at that time) and I was being tested for less than 100 of them. This was prior to Mark and I doing In Vitro.

So I talked to his doctor and did some research on all of the CF sites I've even been on....ambry genetic was the most advanced (and still is to my knowledge).

I did the ambry test, which my insurance covered, and I wasn't a carrier for any of the 1000+ mutations that they tested for. I would HIGHLY recommend you consider them!
 
J

julie

New member
I'd go with ambry genetics, www.ambrygen.com They are a sponsor for this site, but that has nothing to do with my recommendation.
<br />
<br />I had a 25 mutation panel done about 5 years ago, and a few months afer that I did a more comprehenzive 87 mutation panel through genzyme. But I wasn't satisified knowing there were over 1,000 (at that time) and I was being tested for less than 100 of them. This was prior to Mark and I doing In Vitro.
<br />
<br />So I talked to his doctor and did some research on all of the CF sites I've even been on....ambry genetic was the most advanced (and still is to my knowledge).
<br />
<br />I did the ambry test, which my insurance covered, and I wasn't a carrier for any of the 1000+ mutations that they tested for. I would HIGHLY recommend you consider them!
 
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