一種用于囊腫性纖維化（CF）的新型DNA測試，能夠同時檢測和鑒別囊腫性纖維化轉膜傳導調節子基因（CFTR）的突變和變異。這種多元檢測方法已經得到了美國食品藥品管理局的批準，可以用于診斷用途的體外檢測。

這項檢測將被用于確定成人的CF攜帶狀態，作為新生兒篩查的輔助，以及新生兒和兒童的確診。使用Tag-It CF試劑盒進行檢測的準確性為100%而可重復性超過99.9%。這項檢測能夠篩查23個CFTR基因突變以及變異株。除此之外，試劑盒還能篩查另外16種突變。試劑盒并不可以用于胎兒診斷、受精卵植入著床前的檢測、或者單機診斷目的。

這項檢測是由Tm生物科學公司研制開發的。該公司的所有基因檢測產品都是以Tag-It統一檢測平臺為基礎的，這種平臺使用所有的統一tag系統，能夠進行簡單的優化處理、產品開發以及擴展。Tm生物科學公司的檢測產品在Luminex xMAP系統上操作，系統是以小珠為基礎的設備。該公司的系統包括對基因疾病、藥物代謝以及感染性疾病的檢測。

美國醫學遺傳學院的執行主任Michael Watson博士說：“FDA對囊腫性纖維化檢測方法的批準，為實驗室提供了標準產品，對遺傳檢測工業、臨床醫生和患者提供了巨大效益。”
 
Genotyping Test for Cystic Fibrosis
 
A new DNA test has been developed for cystic fibrosis (CF) that can be used simultaneously to detect and identify mutations and variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The multiplexed test has been cleared by the U.S. Food and Drug Administration (FDA) as an in vitro device for diagnostic use.

The test will be used to determine CF carrier status in adults, as an aid in newborn screening, and in confirmatory diagnostic testing in newborns and children. Performance testing has established that the Tag-It CF kit operates with 100% accuracy and greater than 99.9% reproducibility. The test screens for 23 CFTR gene mutations and four variants. In addition, the kit screens for 16 additional mutations. The kit is not indicated for use as a fetal diagnostic, for pre-implantation testing, or for stand-alone diagnostic purposes.

The test was developed by Tm Bioscience (Toronto, Canada). All of the company’s genetic tests are based on the Tag-It universal array platform, which utilizes a proprietary universal tag system that allows for easy optimization, product development, and expansion. Assays from Tm Bioscience operate on the Luminex xMAP system, a bead-based instrument. The company’s pipeline includes tests for genetic disorders, drug metabolism, and infectious diseases.

“Clearance by the FDA of a genetic assay for cystic fibrosis provides a highly standardized product for laboratories that offers tremendous benefits to the genetic testing industry, physicians, and to patients,” observed Dr. Michael Watson, executive director, American College of Medical Genetics.