My 2yo might have CF. A few questions-RESULTS IN! UPDATED! 1-16-08

Alyssa · Sep 9, 2007

My 2yo might have CF. A few questions

Full genetic testing is just a simple blood draw - it's getting the orders for complete genetic testing with deletion sequencing (done by Ambry) that is the point you want to get across to the doctor. Often times a doctor will want to order a smaller testing of genetics - same blood draw, less expensive, but they only look for 30, 40 or 98 CF genes -- there are 1,541 CF genes to look for so I think it is a complete waste of resources to look for anything less than all of them! But it is a cheaper test that insurance usually likes to pay for better. The problem is, if they come up negative too, you will still be left wondering if you didn't find the genes because they never looked for nearly 1500 of them! And, don't let them tell you they are looking for "the most common" ones either -- there are only about 3 genes that are consistently seen as "common", beyond that the rest are all just out there for everyone to have. Steve the Ambry guy will tell you that the smaller tests are random - they don't even look for the same genes in each test -- sounds like Russian roulette to me! Ask for full testing, then you can put this issue to rest.

Alyssa · Sep 9, 2007

My 2yo might have CF. A few questions

Full genetic testing is just a simple blood draw - it's getting the orders for complete genetic testing with deletion sequencing (done by Ambry) that is the point you want to get across to the doctor. Often times a doctor will want to order a smaller testing of genetics - same blood draw, less expensive, but they only look for 30, 40 or 98 CF genes -- there are 1,541 CF genes to look for so I think it is a complete waste of resources to look for anything less than all of them! But it is a cheaper test that insurance usually likes to pay for better. The problem is, if they come up negative too, you will still be left wondering if you didn't find the genes because they never looked for nearly 1500 of them! And, don't let them tell you they are looking for "the most common" ones either -- there are only about 3 genes that are consistently seen as "common", beyond that the rest are all just out there for everyone to have. Steve the Ambry guy will tell you that the smaller tests are random - they don't even look for the same genes in each test -- sounds like Russian roulette to me! Ask for full testing, then you can put this issue to rest.

Alyssa · Sep 9, 2007

My 2yo might have CF. A few questions

Full genetic testing is just a simple blood draw - it's getting the orders for complete genetic testing with deletion sequencing (done by Ambry) that is the point you want to get across to the doctor. Often times a doctor will want to order a smaller testing of genetics - same blood draw, less expensive, but they only look for 30, 40 or 98 CF genes -- there are 1,541 CF genes to look for so I think it is a complete waste of resources to look for anything less than all of them! But it is a cheaper test that insurance usually likes to pay for better. The problem is, if they come up negative too, you will still be left wondering if you didn't find the genes because they never looked for nearly 1500 of them! And, don't let them tell you they are looking for "the most common" ones either -- there are only about 3 genes that are consistently seen as "common", beyond that the rest are all just out there for everyone to have. Steve the Ambry guy will tell you that the smaller tests are random - they don't even look for the same genes in each test -- sounds like Russian roulette to me! Ask for full testing, then you can put this issue to rest.

Alyssa · Sep 9, 2007

My 2yo might have CF. A few questions

Full genetic testing is just a simple blood draw - it's getting the orders for complete genetic testing with deletion sequencing (done by Ambry) that is the point you want to get across to the doctor. Often times a doctor will want to order a smaller testing of genetics - same blood draw, less expensive, but they only look for 30, 40 or 98 CF genes -- there are 1,541 CF genes to look for so I think it is a complete waste of resources to look for anything less than all of them! But it is a cheaper test that insurance usually likes to pay for better. The problem is, if they come up negative too, you will still be left wondering if you didn't find the genes because they never looked for nearly 1500 of them! And, don't let them tell you they are looking for "the most common" ones either -- there are only about 3 genes that are consistently seen as "common", beyond that the rest are all just out there for everyone to have. Steve the Ambry guy will tell you that the smaller tests are random - they don't even look for the same genes in each test -- sounds like Russian roulette to me! Ask for full testing, then you can put this issue to rest.

Alyssa · Sep 9, 2007

My 2yo might have CF. A few questions

Full genetic testing is just a simple blood draw - it's getting the orders for complete genetic testing with deletion sequencing (done by Ambry) that is the point you want to get across to the doctor. Often times a doctor will want to order a smaller testing of genetics - same blood draw, less expensive, but they only look for 30, 40 or 98 CF genes -- there are 1,541 CF genes to look for so I think it is a complete waste of resources to look for anything less than all of them! But it is a cheaper test that insurance usually likes to pay for better. The problem is, if they come up negative too, you will still be left wondering if you didn't find the genes because they never looked for nearly 1500 of them! And, don't let them tell you they are looking for "the most common" ones either -- there are only about 3 genes that are consistently seen as "common", beyond that the rest are all just out there for everyone to have. Steve the Ambry guy will tell you that the smaller tests are random - they don't even look for the same genes in each test -- sounds like Russian roulette to me! Ask for full testing, then you can put this issue to rest.

mom2Kierstyn · Sep 12, 2007