Hi, everyone. I've seen a lot of folks posting situations similar to mine and lots of great advice about pushing Dr.s to do genetics testing. I wanted to see if anyone has advice about how to accomplish this and also if there's another way about it if Dr. says no (ie. are there any genetics testing centers who don't require Dr. referral)? To give some context, my hubby and I are both carriers and had amnio while pregnant with DD. She is also a carrier (with dad's CF mutation) but has had chronic pulmonary problems since birth and is very small. Her newborn screening was low and multiple Dr.'s and 2 genetics counselors won't "waste resources" doing a genetic sequencing on her because in order for her to have CF, I would also have to have it - with one gene mutation that didn't show up in the prenatal screenings. I get their logic, but am also realizing from so many posts here that even prenatal screening sometimes misses CF. Any recommendations for how to proceed would be most helpful. The pulmonary specialist says all her symptoms point to CF, but still won't order the sequencing!
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How to get Dr. to do genetic sequencing?
- Thread starter Naumowex1
- Start date
Hi, everyone. I've seen a lot of folks posting situations similar to mine and lots of great advice about pushing Dr.s to do genetics testing. I wanted to see if anyone has advice about how to accomplish this and also if there's another way about it if Dr. says no (ie. are there any genetics testing centers who don't require Dr. referral)? To give some context, my hubby and I are both carriers and had amnio while pregnant with DD. She is also a carrier (with dad's CF mutation) but has had chronic pulmonary problems since birth and is very small. Her newborn screening was low and multiple Dr.'s and 2 genetics counselors won't "waste resources" doing a genetic sequencing on her because in order for her to have CF, I would also have to have it - with one gene mutation that didn't show up in the prenatal screenings. I get their logic, but am also realizing from so many posts here that even prenatal screening sometimes misses CF. Any recommendations for how to proceed would be most helpful. The pulmonary specialist says all her symptoms point to CF, but still won't order the sequencing!
Hi, everyone. I've seen a lot of folks posting situations similar to mine and lots of great advice about pushing Dr.s to do genetics testing. I wanted to see if anyone has advice about how to accomplish this and also if there's another way about it if Dr. says no (ie. are there any genetics testing centers who don't require Dr. referral)? To give some context, my hubby and I are both carriers and had amnio while pregnant with DD. She is also a carrier (with dad's CF mutation) but has had chronic pulmonary problems since birth and is very small. Her newborn screening was low and multiple Dr.'s and 2 genetics counselors won't "waste resources" doing a genetic sequencing on her because in order for her to have CF, I would also have to have it - with one gene mutation that didn't show up in the prenatal screenings. I get their logic, but am also realizing from so many posts here that even prenatal screening sometimes misses CF. Any recommendations for how to proceed would be most helpful. The pulmonary specialist says all her symptoms point to CF, but still won't order the sequencing!
Hi, everyone. I've seen a lot of folks posting situations similar to mine and lots of great advice about pushing Dr.s to do genetics testing. I wanted to see if anyone has advice about how to accomplish this and also if there's another way about it if Dr. says no (ie. are there any genetics testing centers who don't require Dr. referral)? To give some context, my hubby and I are both carriers and had amnio while pregnant with DD. She is also a carrier (with dad's CF mutation) but has had chronic pulmonary problems since birth and is very small. Her newborn screening was low and multiple Dr.'s and 2 genetics counselors won't "waste resources" doing a genetic sequencing on her because in order for her to have CF, I would also have to have it - with one gene mutation that didn't show up in the prenatal screenings. I get their logic, but am also realizing from so many posts here that even prenatal screening sometimes misses CF. Any recommendations for how to proceed would be most helpful. The pulmonary specialist says all her symptoms point to CF, but still won't order the sequencing!
Hi, everyone. I've seen a lot of folks posting situations similar to mine and lots of great advice about pushing Dr.s to do genetics testing. I wanted to see if anyone has advice about how to accomplish this and also if there's another way about it if Dr. says no (ie. are there any genetics testing centers who don't require Dr. referral)? To give some context, my hubby and I are both carriers and had amnio while pregnant with DD. She is also a carrier (with dad's CF mutation) but has had chronic pulmonary problems since birth and is very small. Her newborn screening was low and multiple Dr.'s and 2 genetics counselors won't "waste resources" doing a genetic sequencing on her because in order for her to have CF, I would also have to have it - with one gene mutation that didn't show up in the prenatal screenings. I get their logic, but am also realizing from so many posts here that even prenatal screening sometimes misses CF. Any recommendations for how to proceed would be most helpful. The pulmonary specialist says all her symptoms point to CF, but still won't order the sequencing!
You tell your doctor that you would like genetic sequencing and if he/she refuses, ask that it be put in your child's chart that parents requested testing and doctor refused because.... If they agree to do the testing, great. If not, head out the door and find another doctor. BTW, it's my understanding that ANY doctor can request additional testing it doesn't have to be the doctor you're seeing.
You tell your doctor that you would like genetic sequencing and if he/she refuses, ask that it be put in your child's chart that parents requested testing and doctor refused because.... If they agree to do the testing, great. If not, head out the door and find another doctor. BTW, it's my understanding that ANY doctor can request additional testing it doesn't have to be the doctor you're seeing.
You tell your doctor that you would like genetic sequencing and if he/she refuses, ask that it be put in your child's chart that parents requested testing and doctor refused because.... If they agree to do the testing, great. If not, head out the door and find another doctor. BTW, it's my understanding that ANY doctor can request additional testing it doesn't have to be the doctor you're seeing.
You tell your doctor that you would like genetic sequencing and if he/she refuses, ask that it be put in your child's chart that parents requested testing and doctor refused because.... If they agree to do the testing, great. If not, head out the door and find another doctor. BTW, it's my understanding that ANY doctor can request additional testing it doesn't have to be the doctor you're seeing.
You tell your doctor that you would like genetic sequencing and if he/she refuses, ask that it be put in your child's chart that parents requested testing and doctor refused because.... If they agree to do the testing, great. If not, head out the door and find another doctor. BTW, it's my understanding that ANY doctor can request additional testing it doesn't have to be the doctor you're seeing.