Testing for my son

A

Asexyblond23

New member
I am double D508 so we know that nicolas does not have my cf genes. They tested for that in the newborn screening. Ins agreed to pay for the ambrey test but now they are changing it and we would have to pay $1600 to have the 1600 panel test done.

My husbands thought and question is what makes nicolas more prone to having CF then any other child. We know that he does not have my mutations. Would they show on a screening as a carrier for D508? Im really really worried about testing him I really want to but if we know he does not have CF with D508 then does he really have more of a chance then any other person to have CF? Nick my husband had the regular carrier testing done and he came back negitive as a carrrier.

Im just in a confused state and dont know if getting the test is worth the $1600 right now knowing that he doesnt have my mutations.
 
A

Asexyblond23

New member
I am double D508 so we know that nicolas does not have my cf genes. They tested for that in the newborn screening. Ins agreed to pay for the ambrey test but now they are changing it and we would have to pay $1600 to have the 1600 panel test done.

My husbands thought and question is what makes nicolas more prone to having CF then any other child. We know that he does not have my mutations. Would they show on a screening as a carrier for D508? Im really really worried about testing him I really want to but if we know he does not have CF with D508 then does he really have more of a chance then any other person to have CF? Nick my husband had the regular carrier testing done and he came back negitive as a carrrier.

Im just in a confused state and dont know if getting the test is worth the $1600 right now knowing that he doesnt have my mutations.
 
A

Asexyblond23

New member
I am double D508 so we know that nicolas does not have my cf genes. They tested for that in the newborn screening. Ins agreed to pay for the ambrey test but now they are changing it and we would have to pay $1600 to have the 1600 panel test done.

My husbands thought and question is what makes nicolas more prone to having CF then any other child. We know that he does not have my mutations. Would they show on a screening as a carrier for D508? Im really really worried about testing him I really want to but if we know he does not have CF with D508 then does he really have more of a chance then any other person to have CF? Nick my husband had the regular carrier testing done and he came back negitive as a carrrier.

Im just in a confused state and dont know if getting the test is worth the $1600 right now knowing that he doesnt have my mutations.
 
A

Asexyblond23

New member
I am double D508 so we know that nicolas does not have my cf genes. They tested for that in the newborn screening. Ins agreed to pay for the ambrey test but now they are changing it and we would have to pay $1600 to have the 1600 panel test done.

My husbands thought and question is what makes nicolas more prone to having CF then any other child. We know that he does not have my mutations. Would they show on a screening as a carrier for D508? Im really really worried about testing him I really want to but if we know he does not have CF with D508 then does he really have more of a chance then any other person to have CF? Nick my husband had the regular carrier testing done and he came back negitive as a carrrier.

Im just in a confused state and dont know if getting the test is worth the $1600 right now knowing that he doesnt have my mutations.
 
A

Asexyblond23

New member
I am double D508 so we know that nicolas does not have my cf genes. They tested for that in the newborn screening. Ins agreed to pay for the ambrey test but now they are changing it and we would have to pay $1600 to have the 1600 panel test done.
<br />
<br />My husbands thought and question is what makes nicolas more prone to having CF then any other child. We know that he does not have my mutations. Would they show on a screening as a carrier for D508? Im really really worried about testing him I really want to but if we know he does not have CF with D508 then does he really have more of a chance then any other person to have CF? Nick my husband had the regular carrier testing done and he came back negitive as a carrrier.
<br />
<br />Im just in a confused state and dont know if getting the test is worth the $1600 right now knowing that he doesnt have my mutations.
 
H

hmw

New member
Your son *is* a carrier of the df508 mutation; since you are a DDF508 you passed on one of your mutations to him. All children that are born to a parent with cf are carriers of one of their mutations; that is how the genetics work.

How exactly was your son tested already? IRT levels, a panel, a sweat test- I am a little confused by your post and wondered what they told you specifically about his results, since he is definitely a carrier. eta> if they told you he 'passed' his newborn screening, what they might have meant was he had a normal IRT level, not that he didn't show any mutations (many states don't do a panel test looking for mutations, esp if the baby has a normal IRT.)

What kind of carrier testing did your husband have? Any kind of 'panel' isn't enough. ESPECIALLY if your husband did not have the full Ambry Amplified with deletions and duplications I would want that done now for Nicolas, and I would push as much as possible to get insurance to cover it.

As far as your husband's questions of 'what odds' your baby has of having cf compared to any other baby... well, it depends on the thoroughness of the carrier screening your dh had. Was it Ambry or was it a 'panel'? There are more than 1,500 mutations and if he was only tested for a small number of them, I would not be comfortable with assuming he is not a carrier. General statistics based on genetics: two carriers- who in most cases aren't aware of the fact until after they have an affected child- have a 25% chance of having a baby with cf. If someone with cf has a child with someone who DOES turn out to be a carrier, the baby has a 50% chance of having cf. If someone with cf has a baby with someone who is NOT a carrier, the baby absolutely cannot have cf but will be a carrier.

How is your baby doing- are you seeing anything of concern? If he is having any concerning symptoms (not growing as well as he should or falling off his curve on the chart, greasy stools, ANY respiratory symptoms, i.e. even a slight cough or slight congestion at his age is concerning), this can be used as impetus to push for coverage for Ambry testing.

I hope your baby is healthy and well and does NOT have cf, but I would definitely want to have the Ambry testing done, for your own peace of mind and for Nicolas' best odds for a healthy future in a 'just in case' kind of way. <img src="i/expressions/heart.gif" border="0">
 
H

hmw

New member
Your son *is* a carrier of the df508 mutation; since you are a DDF508 you passed on one of your mutations to him. All children that are born to a parent with cf are carriers of one of their mutations; that is how the genetics work.

How exactly was your son tested already? IRT levels, a panel, a sweat test- I am a little confused by your post and wondered what they told you specifically about his results, since he is definitely a carrier. eta> if they told you he 'passed' his newborn screening, what they might have meant was he had a normal IRT level, not that he didn't show any mutations (many states don't do a panel test looking for mutations, esp if the baby has a normal IRT.)

What kind of carrier testing did your husband have? Any kind of 'panel' isn't enough. ESPECIALLY if your husband did not have the full Ambry Amplified with deletions and duplications I would want that done now for Nicolas, and I would push as much as possible to get insurance to cover it.

As far as your husband's questions of 'what odds' your baby has of having cf compared to any other baby... well, it depends on the thoroughness of the carrier screening your dh had. Was it Ambry or was it a 'panel'? There are more than 1,500 mutations and if he was only tested for a small number of them, I would not be comfortable with assuming he is not a carrier. General statistics based on genetics: two carriers- who in most cases aren't aware of the fact until after they have an affected child- have a 25% chance of having a baby with cf. If someone with cf has a child with someone who DOES turn out to be a carrier, the baby has a 50% chance of having cf. If someone with cf has a baby with someone who is NOT a carrier, the baby absolutely cannot have cf but will be a carrier.

How is your baby doing- are you seeing anything of concern? If he is having any concerning symptoms (not growing as well as he should or falling off his curve on the chart, greasy stools, ANY respiratory symptoms, i.e. even a slight cough or slight congestion at his age is concerning), this can be used as impetus to push for coverage for Ambry testing.

I hope your baby is healthy and well and does NOT have cf, but I would definitely want to have the Ambry testing done, for your own peace of mind and for Nicolas' best odds for a healthy future in a 'just in case' kind of way. <img src="i/expressions/heart.gif" border="0">
 
H

hmw

New member
Your son *is* a carrier of the df508 mutation; since you are a DDF508 you passed on one of your mutations to him. All children that are born to a parent with cf are carriers of one of their mutations; that is how the genetics work.

How exactly was your son tested already? IRT levels, a panel, a sweat test- I am a little confused by your post and wondered what they told you specifically about his results, since he is definitely a carrier. eta> if they told you he 'passed' his newborn screening, what they might have meant was he had a normal IRT level, not that he didn't show any mutations (many states don't do a panel test looking for mutations, esp if the baby has a normal IRT.)

What kind of carrier testing did your husband have? Any kind of 'panel' isn't enough. ESPECIALLY if your husband did not have the full Ambry Amplified with deletions and duplications I would want that done now for Nicolas, and I would push as much as possible to get insurance to cover it.

As far as your husband's questions of 'what odds' your baby has of having cf compared to any other baby... well, it depends on the thoroughness of the carrier screening your dh had. Was it Ambry or was it a 'panel'? There are more than 1,500 mutations and if he was only tested for a small number of them, I would not be comfortable with assuming he is not a carrier. General statistics based on genetics: two carriers- who in most cases aren't aware of the fact until after they have an affected child- have a 25% chance of having a baby with cf. If someone with cf has a child with someone who DOES turn out to be a carrier, the baby has a 50% chance of having cf. If someone with cf has a baby with someone who is NOT a carrier, the baby absolutely cannot have cf but will be a carrier.

How is your baby doing- are you seeing anything of concern? If he is having any concerning symptoms (not growing as well as he should or falling off his curve on the chart, greasy stools, ANY respiratory symptoms, i.e. even a slight cough or slight congestion at his age is concerning), this can be used as impetus to push for coverage for Ambry testing.

I hope your baby is healthy and well and does NOT have cf, but I would definitely want to have the Ambry testing done, for your own peace of mind and for Nicolas' best odds for a healthy future in a 'just in case' kind of way. <img src="i/expressions/heart.gif" border="0">
 
H

hmw

New member
Your son *is* a carrier of the df508 mutation; since you are a DDF508 you passed on one of your mutations to him. All children that are born to a parent with cf are carriers of one of their mutations; that is how the genetics work.

How exactly was your son tested already? IRT levels, a panel, a sweat test- I am a little confused by your post and wondered what they told you specifically about his results, since he is definitely a carrier. eta> if they told you he 'passed' his newborn screening, what they might have meant was he had a normal IRT level, not that he didn't show any mutations (many states don't do a panel test looking for mutations, esp if the baby has a normal IRT.)

What kind of carrier testing did your husband have? Any kind of 'panel' isn't enough. ESPECIALLY if your husband did not have the full Ambry Amplified with deletions and duplications I would want that done now for Nicolas, and I would push as much as possible to get insurance to cover it.

As far as your husband's questions of 'what odds' your baby has of having cf compared to any other baby... well, it depends on the thoroughness of the carrier screening your dh had. Was it Ambry or was it a 'panel'? There are more than 1,500 mutations and if he was only tested for a small number of them, I would not be comfortable with assuming he is not a carrier. General statistics based on genetics: two carriers- who in most cases aren't aware of the fact until after they have an affected child- have a 25% chance of having a baby with cf. If someone with cf has a child with someone who DOES turn out to be a carrier, the baby has a 50% chance of having cf. If someone with cf has a baby with someone who is NOT a carrier, the baby absolutely cannot have cf but will be a carrier.

How is your baby doing- are you seeing anything of concern? If he is having any concerning symptoms (not growing as well as he should or falling off his curve on the chart, greasy stools, ANY respiratory symptoms, i.e. even a slight cough or slight congestion at his age is concerning), this can be used as impetus to push for coverage for Ambry testing.

I hope your baby is healthy and well and does NOT have cf, but I would definitely want to have the Ambry testing done, for your own peace of mind and for Nicolas' best odds for a healthy future in a 'just in case' kind of way. <img src="i/expressions/heart.gif" border="0">
 
H

hmw

New member
Your son *is* a carrier of the df508 mutation; since you are a DDF508 you passed on one of your mutations to him. All children that are born to a parent with cf are carriers of one of their mutations; that is how the genetics work.
<br />
<br />How exactly was your son tested already? IRT levels, a panel, a sweat test- I am a little confused by your post and wondered what they told you specifically about his results, since he is definitely a carrier. eta> if they told you he 'passed' his newborn screening, what they might have meant was he had a normal IRT level, not that he didn't show any mutations (many states don't do a panel test looking for mutations, esp if the baby has a normal IRT.)
<br />
<br />What kind of carrier testing did your husband have? Any kind of 'panel' isn't enough. ESPECIALLY if your husband did not have the full Ambry Amplified with deletions and duplications I would want that done now for Nicolas, and I would push as much as possible to get insurance to cover it.
<br />
<br />As far as your husband's questions of 'what odds' your baby has of having cf compared to any other baby... well, it depends on the thoroughness of the carrier screening your dh had. Was it Ambry or was it a 'panel'? There are more than 1,500 mutations and if he was only tested for a small number of them, I would not be comfortable with assuming he is not a carrier. General statistics based on genetics: two carriers- who in most cases aren't aware of the fact until after they have an affected child- have a 25% chance of having a baby with cf. If someone with cf has a child with someone who DOES turn out to be a carrier, the baby has a 50% chance of having cf. If someone with cf has a baby with someone who is NOT a carrier, the baby absolutely cannot have cf but will be a carrier.
<br />
<br />How is your baby doing- are you seeing anything of concern? If he is having any concerning symptoms (not growing as well as he should or falling off his curve on the chart, greasy stools, ANY respiratory symptoms, i.e. even a slight cough or slight congestion at his age is concerning), this can be used as impetus to push for coverage for Ambry testing.
<br />
<br />I hope your baby is healthy and well and does NOT have cf, but I would definitely want to have the Ambry testing done, for your own peace of mind and for Nicolas' best odds for a healthy future in a 'just in case' kind of way. <img src="i/expressions/heart.gif" border="0">
 
C

cf4life

New member
Like stated you son will have one of your bad mutations. If your husband happened to be a carrier your son would have a 50% chance of getting his bad gene, which would give your son CF. If your husband has 2 good copies your son would be a carrier.

So you can either get the Ambrey test on your son or on your husband. If your husband is clean then your son is just a carrier. If you husband is a carrier of a less common that was not found previously then like I said your son had a 50% chance of inheriting that one and you should get the Ambrey for him to see if he did.
 
C

cf4life

New member
Like stated you son will have one of your bad mutations. If your husband happened to be a carrier your son would have a 50% chance of getting his bad gene, which would give your son CF. If your husband has 2 good copies your son would be a carrier.

So you can either get the Ambrey test on your son or on your husband. If your husband is clean then your son is just a carrier. If you husband is a carrier of a less common that was not found previously then like I said your son had a 50% chance of inheriting that one and you should get the Ambrey for him to see if he did.
 
C

cf4life

New member
Like stated you son will have one of your bad mutations. If your husband happened to be a carrier your son would have a 50% chance of getting his bad gene, which would give your son CF. If your husband has 2 good copies your son would be a carrier.

So you can either get the Ambrey test on your son or on your husband. If your husband is clean then your son is just a carrier. If you husband is a carrier of a less common that was not found previously then like I said your son had a 50% chance of inheriting that one and you should get the Ambrey for him to see if he did.
 
C

cf4life

New member
Like stated you son will have one of your bad mutations. If your husband happened to be a carrier your son would have a 50% chance of getting his bad gene, which would give your son CF. If your husband has 2 good copies your son would be a carrier.

So you can either get the Ambrey test on your son or on your husband. If your husband is clean then your son is just a carrier. If you husband is a carrier of a less common that was not found previously then like I said your son had a 50% chance of inheriting that one and you should get the Ambrey for him to see if he did.
 
C

cf4life

New member
Like stated you son will have one of your bad mutations. If your husband happened to be a carrier your son would have a 50% chance of getting his bad gene, which would give your son CF. If your husband has 2 good copies your son would be a carrier.
<br />
<br />So you can either get the Ambrey test on your son or on your husband. If your husband is clean then your son is just a carrier. If you husband is a carrier of a less common that was not found previously then like I said your son had a 50% chance of inheriting that one and you should get the Ambrey for him to see if he did.
 
L

LouLou

New member
As you probably know from my experience, I suggest that you get your son sequenced for all 1600 mutations. Harriet said it well.

My husband was not a carrier of the 89 mutation panel. They told us we had a 1 in 500 chance of conceiving a cf baby. When my son was 3 months old I said I wanted to "close the book" on any chance of him having cf. He had no signs. They wanted to sweat test. I said that was fine if they did it the same day as the genetic which was all I cared about at the time. He was negative for cf by sweat test but did show up with two mutations. One from me - G551D and one from SUPRISE!!! Dad (S1235R). Dad was so surprised and shocked he thought well maybe he should get tested too. The hospital thought we were CRAZY. They only found the one mutation in Dad. We're glad we had both tests done for our son because the normal sweat test shows us that his chloride channel is working. Nonetheless, we do preventative vest and agressively treat any coughs that linger with antibiotics.

It's best to do it for peace of mind.
 
L

LouLou

New member
As you probably know from my experience, I suggest that you get your son sequenced for all 1600 mutations. Harriet said it well.

My husband was not a carrier of the 89 mutation panel. They told us we had a 1 in 500 chance of conceiving a cf baby. When my son was 3 months old I said I wanted to "close the book" on any chance of him having cf. He had no signs. They wanted to sweat test. I said that was fine if they did it the same day as the genetic which was all I cared about at the time. He was negative for cf by sweat test but did show up with two mutations. One from me - G551D and one from SUPRISE!!! Dad (S1235R). Dad was so surprised and shocked he thought well maybe he should get tested too. The hospital thought we were CRAZY. They only found the one mutation in Dad. We're glad we had both tests done for our son because the normal sweat test shows us that his chloride channel is working. Nonetheless, we do preventative vest and agressively treat any coughs that linger with antibiotics.

It's best to do it for peace of mind.
 
L

LouLou

New member
As you probably know from my experience, I suggest that you get your son sequenced for all 1600 mutations. Harriet said it well.

My husband was not a carrier of the 89 mutation panel. They told us we had a 1 in 500 chance of conceiving a cf baby. When my son was 3 months old I said I wanted to "close the book" on any chance of him having cf. He had no signs. They wanted to sweat test. I said that was fine if they did it the same day as the genetic which was all I cared about at the time. He was negative for cf by sweat test but did show up with two mutations. One from me - G551D and one from SUPRISE!!! Dad (S1235R). Dad was so surprised and shocked he thought well maybe he should get tested too. The hospital thought we were CRAZY. They only found the one mutation in Dad. We're glad we had both tests done for our son because the normal sweat test shows us that his chloride channel is working. Nonetheless, we do preventative vest and agressively treat any coughs that linger with antibiotics.

It's best to do it for peace of mind.
 
L

LouLou

New member
As you probably know from my experience, I suggest that you get your son sequenced for all 1600 mutations. Harriet said it well.

My husband was not a carrier of the 89 mutation panel. They told us we had a 1 in 500 chance of conceiving a cf baby. When my son was 3 months old I said I wanted to "close the book" on any chance of him having cf. He had no signs. They wanted to sweat test. I said that was fine if they did it the same day as the genetic which was all I cared about at the time. He was negative for cf by sweat test but did show up with two mutations. One from me - G551D and one from SUPRISE!!! Dad (S1235R). Dad was so surprised and shocked he thought well maybe he should get tested too. The hospital thought we were CRAZY. They only found the one mutation in Dad. We're glad we had both tests done for our son because the normal sweat test shows us that his chloride channel is working. Nonetheless, we do preventative vest and agressively treat any coughs that linger with antibiotics.

It's best to do it for peace of mind.
 
L

LouLou

New member
As you probably know from my experience, I suggest that you get your son sequenced for all 1600 mutations. Harriet said it well.
<br />
<br />My husband was not a carrier of the 89 mutation panel. They told us we had a 1 in 500 chance of conceiving a cf baby. When my son was 3 months old I said I wanted to "close the book" on any chance of him having cf. He had no signs. They wanted to sweat test. I said that was fine if they did it the same day as the genetic which was all I cared about at the time. He was negative for cf by sweat test but did show up with two mutations. One from me - G551D and one from SUPRISE!!! Dad (S1235R). Dad was so surprised and shocked he thought well maybe he should get tested too. The hospital thought we were CRAZY. They only found the one mutation in Dad. We're glad we had both tests done for our son because the normal sweat test shows us that his chloride channel is working. Nonetheless, we do preventative vest and agressively treat any coughs that linger with antibiotics.
<br />
<br />It's best to do it for peace of mind.
 
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