MUST be satisfied!

J

jennylivingston

Guest
When I was pregnant, my husband Adam had the 32 gene mutation panel done and was NOT found to be a carrier. At the time, we were satisfied with that. However, as time goes on and I learn more about this disease and just how many mutations exist (thanks, in large part, to this website!) I'm not really satisfied with that anymore.

I've been interested in getting more testing done, either on her or possibly having gene sequencing done on my husband. But since she shows no symptoms, our family doctor and everyone at my CF center have completely dismissed my concerns. Usually saying something like "She's growing fine, so you don't have to worry about it." I'm beyond frustrated with this. I can't seem to make them realize that the only way I'll be satisfied is if I KNOW FOR CERTAIN that Adam is not a carrier...of ANY known mutation, not just 32 of them.

If the doctors are unwilling to help, how can I pursue futher (affordable) testing on my own?
 
J

jennylivingston

Guest
When I was pregnant, my husband Adam had the 32 gene mutation panel done and was NOT found to be a carrier. At the time, we were satisfied with that. However, as time goes on and I learn more about this disease and just how many mutations exist (thanks, in large part, to this website!) I'm not really satisfied with that anymore.

I've been interested in getting more testing done, either on her or possibly having gene sequencing done on my husband. But since she shows no symptoms, our family doctor and everyone at my CF center have completely dismissed my concerns. Usually saying something like "She's growing fine, so you don't have to worry about it." I'm beyond frustrated with this. I can't seem to make them realize that the only way I'll be satisfied is if I KNOW FOR CERTAIN that Adam is not a carrier...of ANY known mutation, not just 32 of them.

If the doctors are unwilling to help, how can I pursue futher (affordable) testing on my own?
 
J

jennylivingston

Guest
When I was pregnant, my husband Adam had the 32 gene mutation panel done and was NOT found to be a carrier. At the time, we were satisfied with that. However, as time goes on and I learn more about this disease and just how many mutations exist (thanks, in large part, to this website!) I'm not really satisfied with that anymore.
<br />
<br />I've been interested in getting more testing done, either on her or possibly having gene sequencing done on my husband. But since she shows no symptoms, our family doctor and everyone at my CF center have completely dismissed my concerns. Usually saying something like "She's growing fine, so you don't have to worry about it." I'm beyond frustrated with this. I can't seem to make them realize that the only way I'll be satisfied is if I KNOW FOR CERTAIN that Adam is not a carrier...of ANY known mutation, not just 32 of them.
<br />
<br />If the doctors are unwilling to help, how can I pursue futher (affordable) testing on my own?
 
A

alabamamom

New member
i kind of ran into a similar problem. my sister had cf, so i knew i might be a carrier and my husband was definetly a carrier. i got tested on a 32 panel and was neg. so i had my parents tested. dad's showed up, mom's didn't. well, apparetly my obgyn thought i was stupid and he refused to do more testing. so i called a local university's med school genetics dept. they do testing there,so i explained that i didn't have a dr. to refer me, but i knew what i needed done. they did the ambrey test on my mom, found the mutation, then tested me. and i AM a carrier. so, i encourage you to find a genetics specialist or any old dr. really, since you can order the ambrey kit, have it sent to you, and all they have to do is write the order and draw the blood. so far as i know they test for 125 (or is it 150),and it cost about $150, which is cheap compared to some others
 
A

alabamamom

New member
i kind of ran into a similar problem. my sister had cf, so i knew i might be a carrier and my husband was definetly a carrier. i got tested on a 32 panel and was neg. so i had my parents tested. dad's showed up, mom's didn't. well, apparetly my obgyn thought i was stupid and he refused to do more testing. so i called a local university's med school genetics dept. they do testing there,so i explained that i didn't have a dr. to refer me, but i knew what i needed done. they did the ambrey test on my mom, found the mutation, then tested me. and i AM a carrier. so, i encourage you to find a genetics specialist or any old dr. really, since you can order the ambrey kit, have it sent to you, and all they have to do is write the order and draw the blood. so far as i know they test for 125 (or is it 150),and it cost about $150, which is cheap compared to some others
 
A

alabamamom

New member
i kind of ran into a similar problem. my sister had cf, so i knew i might be a carrier and my husband was definetly a carrier. i got tested on a 32 panel and was neg. so i had my parents tested. dad's showed up, mom's didn't. well, apparetly my obgyn thought i was stupid and he refused to do more testing. so i called a local university's med school genetics dept. they do testing there,so i explained that i didn't have a dr. to refer me, but i knew what i needed done. they did the ambrey test on my mom, found the mutation, then tested me. and i AM a carrier. so, i encourage you to find a genetics specialist or any old dr. really, since you can order the ambrey kit, have it sent to you, and all they have to do is write the order and draw the blood. so far as i know they test for 125 (or is it 150),and it cost about $150, which is cheap compared to some others
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>since you can order the ambrey kit, have it sent to you, and all they have to do is write the order and draw the blood. so far as i know they test for 125 (or is it 150),and it cost about $150, which is cheap compared to some others</end quote></div>
Ambry does not do a panel test of any kind. The Ambry CF Amplified is a genetic sequencing test that analyzes the entire gene for mutations and has to date identified well over 1,500 mutations. To the best of my knowledge it runs about $3,000, but the people at Ambry will work with you to help you get insurance coverage as well as work out pymt arrangements if needed. It's not a cheap test but it's the most comprehensive genetic test available for CF- while no genetic test can detect 100% of the mutations, none of the other genetic sequencing tests out there will detect all of the mutations that the Ambry test will.

If they know what mutations to check for, they can do a special test looking for only one or two specific mutations and that costs only a couple hundred dollars (no matter what mutations they are.)
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>since you can order the ambrey kit, have it sent to you, and all they have to do is write the order and draw the blood. so far as i know they test for 125 (or is it 150),and it cost about $150, which is cheap compared to some others</end quote>
Ambry does not do a panel test of any kind. The Ambry CF Amplified is a genetic sequencing test that analyzes the entire gene for mutations and has to date identified well over 1,500 mutations. To the best of my knowledge it runs about $3,000, but the people at Ambry will work with you to help you get insurance coverage as well as work out pymt arrangements if needed. It's not a cheap test but it's the most comprehensive genetic test available for CF- while no genetic test can detect 100% of the mutations, none of the other genetic sequencing tests out there will detect all of the mutations that the Ambry test will.

If they know what mutations to check for, they can do a special test looking for only one or two specific mutations and that costs only a couple hundred dollars (no matter what mutations they are.)
 
H

hmw

New member
<div class="FTQUOTE"><begin quote>since you can order the ambrey kit, have it sent to you, and all they have to do is write the order and draw the blood. so far as i know they test for 125 (or is it 150),and it cost about $150, which is cheap compared to some others</end quote>
<br />Ambry does not do a panel test of any kind. The Ambry CF Amplified is a genetic sequencing test that analyzes the entire gene for mutations and has to date identified well over 1,500 mutations. To the best of my knowledge it runs about $3,000, but the people at Ambry will work with you to help you get insurance coverage as well as work out pymt arrangements if needed. It's not a cheap test but it's the most comprehensive genetic test available for CF- while no genetic test can detect 100% of the mutations, none of the other genetic sequencing tests out there will detect all of the mutations that the Ambry test will.
<br />
<br />If they know what mutations to check for, they can do a special test looking for only one or two specific mutations and that costs only a couple hundred dollars (no matter what mutations they are.)
 
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