Idiopathic bronchiectasis

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What is Idiopathic bronchiectasis ?

Idiopathic bronchiectasis (IB) could loosely be defined as bronchiectasis in

which no clear cause has been found, and in which the clinical pattern differs

from CF and other known causes of bronchiectasis.

Use of CF Genetic Test for IB

Older patients with mild pulmonary disease, including bronchiectasis, may not

present with symptoms until later in life, but are found to have atypical CF

when appropriate investigations are carried out, including normal or

borderline sweat chlorides and pancreatic insufficiency.  Thus, a careful

work-up is

mandatory. This should include not only a standard diagnostic work-up, including

a sweat chloride and radiologic screening for subtle lung disease, but also

nasal potential difference measures in order to evaluate CFTR at a physiologic

level, and screening for mild and rare CFTR mutations.The level of expression

of full-length mature CFTR may be less than that in classic CF, with adverse

consequences for the lung, albeit with a later presentation. Although the

pulmonary disease is milder than that with classic CF, these patients generally

exhibit phenotypic similarities to CF; for example, the distribution of

radiographic changes often involve the upper lobe, and mucoid Pseudomonas

aeruginosa

may be present in the lower airway.

The Ambry Testä : CF  (IB)

IB is a disease which is often caused by atypical or rare mutations on the

CFTR gene.  It has been reported that many patients are commonly misdiagnosed

because common mutation panels are not designed to detect atypical or rare

mutations leading to this condition.  The only reliable method to detect

mutations

causing Atypical CF is to sequence the entire CFTR gene.  The Ambry Test : CF

is the only viable option.

The Ambry Test CF analyzes the full gene plus surrounding critical introns,

thus scanning for over 1000+ mutations, including those that cause IB and other

pulmonary conditions.

Results

Our simple to read results form has full descriptions of the consequences of

each mutation.  We also have a genetic counselor available for your questions

or explanation of mutations.  We understand that genetics is confusing to many

people and are here to help ensure proper understanding of test results.

Results of the DNA analysis are available in 1-3 weeks and are reported directly

to the referring physician or genetic counselor by phone or fax and a written

report is provided for all results.  

For more information please contact Ambry at:

Toll Free:

Phone:

Fax:

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