You are using an out of date browser. It may not display this or other websites correctly.
You should upgrade or use an alternative browser.
You should upgrade or use an alternative browser.
lightNlife
New member
The sweat test used to be the gold standard for determining whether a person has cystic fibrosis. With the advent of more definitive diagnostic procedures such as pre-implantation, prenatal and newborn screening for cystic fibrosis, getting a correct diagnosis is far easier than it used to be.
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
lightNlife
New member
The sweat test used to be the gold standard for determining whether a person has cystic fibrosis. With the advent of more definitive diagnostic procedures such as pre-implantation, prenatal and newborn screening for cystic fibrosis, getting a correct diagnosis is far easier than it used to be.
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
lightNlife
New member
The sweat test used to be the gold standard for determining whether a person has cystic fibrosis. With the advent of more definitive diagnostic procedures such as pre-implantation, prenatal and newborn screening for cystic fibrosis, getting a correct diagnosis is far easier than it used to be.
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
lightNlife
New member
The sweat test used to be the gold standard for determining whether a person has cystic fibrosis. With the advent of more definitive diagnostic procedures such as pre-implantation, prenatal and newborn screening for cystic fibrosis, getting a correct diagnosis is far easier than it used to be.
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
Diagnosed by: blood test or genetic test
* failure to thrive
* feeding problems
* recurrent infections
* slow growth
* Diarrhea with fatty, oily loose stools
* Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
* Enlarged liver
* Diabetes mellitus
* Abnormal pulmonary function test
Celiac Disease (www.celiac.org)
Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
* Recurring bloating, gas or abdominal pain
* Chronic diarrhea or constipation or both
* Unexplained weight loss
* Pale, foul-smelling stool
* Anemia
* Vitamin K deficiency
* Fatigue
* Failure to Thrive (infants)
* Male infertility
Primary Ciliary Diskinesia
Diagnosed by: biopsy of lung or sinus tissue
* Chronic sinusitis
* Bronchiectasis
* Susceptibility to pneumonia and lung infections
* Male infertility
Alpha-1 Antitrypsin Deficiency
Diagnosed by: simple blood test
* Impaired liver function
* Recurrent lung infections
* Airway inflammation
* Hemoptysis
* Swollen abdomen due to enlarged liver
* Wheezing and shortness of breath
* Chronic cough
* Bronchiectasis
lightNlife
New member
The sweat test used to be the gold standard for determining whether a person has cystic fibrosis. With the advent of more definitive diagnostic procedures such as pre-implantation, prenatal and newborn screening for cystic fibrosis, getting a correct diagnosis is far easier than it used to be.
<br />
<br />But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
<br />
<br />Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
<br />
<br />Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
<br />
<br />Diagnosed by: blood test or genetic test
<br />
<br /> * failure to thrive
<br /> * feeding problems
<br /> * recurrent infections
<br /> * slow growth
<br /> * Diarrhea with fatty, oily loose stools
<br /> * Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
<br /> * Enlarged liver
<br /> * Diabetes mellitus
<br /> * Abnormal pulmonary function test
<br />
<br />Celiac Disease (www.celiac.org)
<br />
<br />Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
<br />
<br /> * Recurring bloating, gas or abdominal pain
<br /> * Chronic diarrhea or constipation or both
<br /> * Unexplained weight loss
<br /> * Pale, foul-smelling stool
<br /> * Anemia
<br /> * Vitamin K deficiency
<br /> * Fatigue
<br /> * Failure to Thrive (infants)
<br /> * Male infertility
<br />
<br />Primary Ciliary Diskinesia
<br />
<br />Diagnosed by: biopsy of lung or sinus tissue
<br />
<br /> * Chronic sinusitis
<br /> * Bronchiectasis
<br /> * Susceptibility to pneumonia and lung infections
<br /> * Male infertility
<br />
<br />Alpha-1 Antitrypsin Deficiency
<br />
<br />Diagnosed by: simple blood test
<br />
<br /> * Impaired liver function
<br /> * Recurrent lung infections
<br /> * Airway inflammation
<br /> * Hemoptysis
<br /> * Swollen abdomen due to enlarged liver
<br /> * Wheezing and shortness of breath
<br /> * Chronic cough
<br /> * Bronchiectasis
<br />
<br />But what happens when you or your child still exhibits symptoms that are common to cystic fibrosis? How do you determine whether to keep pushing for more genetic testing to confirm CF, or whether it's time for you and your doctor to start looking at other possibilities?
<br />
<br />Here are the most common diseases that present with symptoms very similar to cystic fibrosis:
<br />
<br />Shwachman-Diamond Syndrome (www.shwachman-diamond.org)
<br />
<br />Diagnosed by: blood test or genetic test
<br />
<br /> * failure to thrive
<br /> * feeding problems
<br /> * recurrent infections
<br /> * slow growth
<br /> * Diarrhea with fatty, oily loose stools
<br /> * Blood clotting problems (similar to vitamin K deficiency in cystic fibrosis)
<br /> * Enlarged liver
<br /> * Diabetes mellitus
<br /> * Abnormal pulmonary function test
<br />
<br />Celiac Disease (www.celiac.org)
<br />
<br />Diagnosed by: 1) celiac blood panel 2) duodenal biopsy and biopsy of multiple locations in the small intestine 3) observed response to gluten free diet
<br />
<br /> * Recurring bloating, gas or abdominal pain
<br /> * Chronic diarrhea or constipation or both
<br /> * Unexplained weight loss
<br /> * Pale, foul-smelling stool
<br /> * Anemia
<br /> * Vitamin K deficiency
<br /> * Fatigue
<br /> * Failure to Thrive (infants)
<br /> * Male infertility
<br />
<br />Primary Ciliary Diskinesia
<br />
<br />Diagnosed by: biopsy of lung or sinus tissue
<br />
<br /> * Chronic sinusitis
<br /> * Bronchiectasis
<br /> * Susceptibility to pneumonia and lung infections
<br /> * Male infertility
<br />
<br />Alpha-1 Antitrypsin Deficiency
<br />
<br />Diagnosed by: simple blood test
<br />
<br /> * Impaired liver function
<br /> * Recurrent lung infections
<br /> * Airway inflammation
<br /> * Hemoptysis
<br /> * Swollen abdomen due to enlarged liver
<br /> * Wheezing and shortness of breath
<br /> * Chronic cough
<br /> * Bronchiectasis
They can analyze those 97 genes all they want, but the fact is if they only tested for 97 genes they left out over 1400 genes that they never even looked for -- the simple fact is that CF is caused by having two CF genes - these two genes are identified in a list of 1561 currently known genes.... if they only ran a panel of 97, they didn't search for all the possibilities ... not even close to all. It's like looking for your missing keys in your house but failing to check all the rooms in the house...so you checked the coat closet and declared "NO KEYS ARE FOUND, THE HOUSE MUST NOT CONTAIN THE KEYS"
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
They can analyze those 97 genes all they want, but the fact is if they only tested for 97 genes they left out over 1400 genes that they never even looked for -- the simple fact is that CF is caused by having two CF genes - these two genes are identified in a list of 1561 currently known genes.... if they only ran a panel of 97, they didn't search for all the possibilities ... not even close to all. It's like looking for your missing keys in your house but failing to check all the rooms in the house...so you checked the coat closet and declared "NO KEYS ARE FOUND, THE HOUSE MUST NOT CONTAIN THE KEYS"
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
They can analyze those 97 genes all they want, but the fact is if they only tested for 97 genes they left out over 1400 genes that they never even looked for -- the simple fact is that CF is caused by having two CF genes - these two genes are identified in a list of 1561 currently known genes.... if they only ran a panel of 97, they didn't search for all the possibilities ... not even close to all. It's like looking for your missing keys in your house but failing to check all the rooms in the house...so you checked the coat closet and declared "NO KEYS ARE FOUND, THE HOUSE MUST NOT CONTAIN THE KEYS"
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
They can analyze those 97 genes all they want, but the fact is if they only tested for 97 genes they left out over 1400 genes that they never even looked for -- the simple fact is that CF is caused by having two CF genes - these two genes are identified in a list of 1561 currently known genes.... if they only ran a panel of 97, they didn't search for all the possibilities ... not even close to all. It's like looking for your missing keys in your house but failing to check all the rooms in the house...so you checked the coat closet and declared "NO KEYS ARE FOUND, THE HOUSE MUST NOT CONTAIN THE KEYS"
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
They can analyze those 97 genes all they want, but the fact is if they only tested for 97 genes they left out over 1400 genes that they never even looked for -- the simple fact is that CF is caused by having two CF genes - these two genes are identified in a list of 1561 currently known genes.... if they only ran a panel of 97, they didn't search for all the possibilities ... not even close to all. It's like looking for your missing keys in your house but failing to check all the rooms in the house...so you checked the coat closet and declared "NO KEYS ARE FOUND, THE HOUSE MUST NOT CONTAIN THE KEYS"
<br />
<br />Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
<br />
<br />Keep pushing for full testing, change doctors and facilities if possible. What your doctor is telling you doesn't make any sense.
I couldn't stand it anymore (that's just the kind of girl I am) <img src="i/expressions/face-icon-small-wink.gif" border="0"><img src=""> so I went to Genzyme's website and looked at their description of the "97 Mutation Analysis".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
I couldn't stand it anymore (that's just the kind of girl I am) <img src="i/expressions/face-icon-small-wink.gif" border="0"><img src=""> so I went to Genzyme's website and looked at their description of the "97 Mutation Analysis".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
I couldn't stand it anymore (that's just the kind of girl I am) <img src="i/expressions/face-icon-small-wink.gif" border="0"><img src=""> so I went to Genzyme's website and looked at their description of the "97 Mutation Analysis".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
I couldn't stand it anymore (that's just the kind of girl I am) <img src="i/expressions/face-icon-small-wink.gif" border="0"><img src=""> so I went to Genzyme's website and looked at their description of the "97 Mutation Analysis".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
<a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a>
You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
I couldn't stand it anymore (that's just the kind of girl I am) <img src="i/expressions/face-icon-small-wink.gif" border="0"><img src=""> so I went to Genzyme's website and looked at their description of the "97 Mutation Analysis".
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a><br />
<br />You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<br />
<br /><i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
<br />
<br />When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
<br />
<br />By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
<br />
<br />Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genzymegenetics.com/testmenu/tests/prerep/cf/molgen_cysticfib.asp
">http://www.genzymegenetics.com.../molgen_cysticfib.asp
</a><br />
<br />You can see at the bottom of the page they list the 97 mutations they test for. Seems like a pretty exhaustive list. However, they go on to also offer the "Cystic Fibrosis Gene Sequencing" test, an excerpt from the page about this I have posted here:
<br />
<br /><i>CF gene sequencing detects approximately 98% of the over 1,200 disease-causing mutations that have been identified in the CFTR gene. Genzyme's full CF gene sequencing test is direct sequence analysis of the CFTR gene, identifying every nucleotide of all 27 exons, their associated splice site regions and clinically-relevant regions of introns that contain disease-causing mutations. We also offer partial CF gene sequencing for families with known mutations not detectable in a general screening assay.
<br />
<br />When mutation analysis test results are negative, or for known familial mutations not detectable by current mutation panels, indications for full or partial CFTR gene sequencing include: Patients affected with classic CF symptoms, patients with atypical CF symptoms, patients with idiopathic chronic pancreatitis, patients with congenital bilateral absence of the vas deferens (CBAVD), carrier identification for parents of an affected CF child, reproductive individuals with a family history of CF and prenatal testing for carrier couples with identified mutations.</i>
<br />
<br />By their own definition, it seems a more extensive test might be called for in your situation ("patients with classic and/or atypical CF symptoms). This extensive test could be done through Genzyme, or Ambry, who I believe cathes more than the 98% claimed by Genzyme.
<br />
<br />Does this clear it up for you at all? Let us know. BTW I wholeheartedly agree with Alyssa, except I would use the term "mutation" in place of "gene".