Luminex Announces Commercial Launch of New Cystic Fibrosis Test

Luminex Announces Commercial Launch of New Cystic Fibrosis Test

Download image AUSTIN, Texas, Aug. 26 /PRNewswire-FirstCall/ -- Luminex Corporation (Nasdaq: LMNX), the worldwide leader in multiplexed solutions, today announced the full commercial launch of its xTAG® Cystic Fibrosis 60 Kit v2, a new diagnostic test that can simultaneously screen a single blood sample for up to 60 cystic fibrosis-causing genetic mutations in a matter of hours.

The test is the most comprehensive and flexible FDA-cleared cystic fibrosis (CF) test available, featuring an unsurpassed level of gene mutation coverage. It will be used to screen potential parents to determine if they are carriers of CF-causing gene mutations, and as an aid in newborn screening and in confirmatory diagnostic testing in newborns and children. The test recently received 510(k) clearance from the U.S. Food and Drug Administration (FDA).
"The launch of our new xTAG Cystic Fibrosis 60 Kit v2 is a great achievement in cystic fibrosis testing," said Patrick J. Balthrop, president and chief executive officer of Luminex. "This cleared test has the most comprehensive genetic mutation coverage available today, featuring mutations found among Caucasians as well as those that are more commonly found in other ethnic populations. It will give doctors the ability to screen children and potential parents of many ethnicities for CF."

Cystic fibrosis is a common genetic disorder that causes the body to produce thick mucus that can clog the lungs and affect the digestive system. Approximately 30,000 Americans have cystic fibrosis. Although CF is most common in those of Caucasian descent, it can affect people of any race or ethnicity.
CF is caused by mutations in the CF transmembrane conductance regulator (CFTR) gene. To date, more than 1,500 of these mutations have been discovered(i). CF can only be passed onto a child when both parents carry a gene that causes the disease. According to the Cystic Fibrosis Foundation, more than 10 million Americans are symptomless carriers of CF-causing gene mutations.
Early diagnosis of CF is important and studies have demonstrated that early treatment and intervention can reduce a child's therapeutic needs, lower rates of medical complications, increase life expectancy and improve overall quality of life. Late diagnosis of cystic fibrosis can lead to health complications, chronic lung infections and compromised growth.
The xTAG Cystic Fibrosis 60 Kit v2 can detect up to 60 CFTR gene mutations from a single patient blood sample. These mutations include the 23 CFTR gene mutations and four variants (polymorphisms) recommended by the American College of Medical Genetics (ACMG) and American College of Obstetricians and Gynecologists (ACOG), as well as 37 additional common North American mutations, including 20 mutations that are found within Hispanic and African-American populations.
The xTAG Cystic Fibrosis 60 Kit v2 is flexible. It gives physicians the ability to select the mutations for which they want to test, allowing them to choose to test a patient for the ACMG/ACOG-recommended gene mutations or the entire panel of 60 CFTR gene mutations.
The test also is easy to use and requires only about one hour of hands-on time to process 48 purified samples. Additionally, the xTAG Cystic Fibrosis 60 Kit v2 does not require reflex testing. All test results are revealed and available for analysis at each run.
The xTAG Cystic Fibrosis 60 Kit v2 is one of a suite of CF tests developed by Luminex. The xTAG Cystic Fibrosis 39 Kit v2, which can simultaneously screen a single blood sample for up to 39 cystic fibrosis-causing gene mutations, is available throughout the U.S., Europe and Canada. The test is also cleared by FDA and was launched as a CE marked IVD product under the European Directive on In Vitro Diagnostic Medical Devices in 2009. It received clearance from Health Canada in 2010.
The xTAG Cystic Fibrosis 71 Kit v2, which can simultaneously screen a single blood sample for up to 71 cystic fibrosis-causing gene mutations, is available in Europe and Canada. The test became a CE marked IVD product in 2009 and was cleared by Health Canada in 2010.
The xTAG Cystic Fibrosis 60 Kit v2 will be available throughout the United States through Luminex Molecular Diagnostics or Fisher HealthCare, part of Thermo Fisher Scientific, Inc. For more information, please visit http://www.luminexcorp.com/cf.


(i) Cystic Fibrosis Genetic Analysis Consortium. Cystic fibrosis mutation database. http://www.genet.sickkids.on.ca. Updated March 2, 2007.

Quest Diagnostics Discovers New Genetic Mutations Affecting Cystic Fibrosis Screening

MADISON, N.J., April 27 NJ-QuestDiagnostics


Company's Scientists also Enhance Industry Standards for Quality Screening in Three Articles Published in The Journal of Molecular Diagnostics



MADISON, N.J., April 27 /PRNewswire-FirstCall/ -- Quest Diagnostics scientists provide new insights into genetic factors affecting the accuracy and quality of Cystic Fibrosis (CF) carrier and newborn screening in three separate articles published in the May 2009 issue of The Journal of Molecular Diagnostics. Quest Diagnostics Incorporated (NYSE: DGX) is the world's leading provider of diagnostic testing, information and services.



The research may enhance the accuracy of carrier and newborn screening for CF, a genetically inherited disease that damages the respiratory and gastrointestinal systems. One in 29 Americans of Northern European Caucasian or Ashkenazi Jewish descent are symptomless carriers of the defective, or mutated, cystic fibrosis transmembrane regulator (CFTR) gene. A child whose parents are both carriers has a one in four chance of developing the disease.



"Taken together, these three papers demonstrate how the widespread and thoughtful experience with [cystic fibrosis] mutation testing and screening continues to reveal new insights about the mutational alleles of the CFTR gene and further refinements in how best to detect them and assure appropriate quality control while doing so," said Wayne W. Grody, M.D., Ph.D., professor in the Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. Dr. Grody, who wrote the commentary "Cystic Fibrosis Testing Comes of Age(1)" in the journal's May issue, is not affiliated with the studies.



"Since the CFTR gene was discovered two decades ago this year, scientists have acquired significant insights into the genetics of CF, one of the most common autosomal recessive genetic disorders," said Charles (Buck) Strom, M.D., Ph.D., medical director of the genetic testing center of Quest Diagnostics Nichols Institute, the esoteric research, development and testing services operation of Quest Diagnostics. "As the world's leading provider of genetic testing for cystic fibrosis, Quest Diagnostics has been at the forefront of efforts to advance scientific understanding of the disease and promote testing quality across the laboratory industry. These efforts are noteworthy because insights into the more than 1,500 mutations affecting the CFTR gene are enhancing the medical understanding of cystic fibrosis as well as the mechanisms of other genetic diseases."



In "Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion,(2)" Strom and his colleagues at Quest Diagnostics present a patient with classic cystic fibrosis who exhibits previously undescribed (novel) mutations that include deletions, or the absence, of large parts of the CFTR gene.  The investigators demonstrate that conventional screening techniques may not accurately identify both defective CFTR genes in patients who have inherited CFTR genes with large deletions.  "The failure to identify these CFTR mutations in carriers could increase the potential that their family members are falsely identified as non-carriers," said Dr. Strom, lead investigator of the study. "Comprehensive mutation analysis using DNA sequencing and exon deletions/duplications is therefore important to resolve apparent homozygosity (the false appearance that the patient inherited the same mutations from each parent) for novel and rare mutations, some of which are currently found in recommended testing panels."



In "Identification of cystic fibrosis (CF) variants by PCR/oligonucleotide ligation (OLA) assay,(3)" Quest Diagnostics' scientists analyzed one million specimens in the Quest Diagnostics database in order to identify rare genetic variants that are potential sources of testing error.  The investigators, led by Victoria Pratt, Ph.D., FACMG, chief director, Molecular Genetics, Quest Diagnostics Nichols Institute, identified eleven instances of "allele drop-out," or failure to detect a targeted mutation, for an aberrancy rate of less than 0.01%. "We concluded that the recognition and enumeration of such variants along with clinical information in CF testing is valuable in avoiding false-positive and false-negative results," Dr. Pratt said.



In addition, Quest Diagnostics, participated in a study coordinated by the Centers for Disease Control and Prevention's Genetic Testing Reference Material Coordination (GeT-RM) to develop a set of genomic DNA reference materials for CF mutations not currently included in a 23-mutation test panel recommended for carrier screening by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG).  These additional mutations are currently offered in half of the nearly dozen commercially available test panels on the CF testing market, which has grown significantly since ACMG/ACOG made their first CFTR mutation screening recommendation in 2001. 



"Accurate characterization of CF mutations is essential to promoting uniform standards and quality screening. Yet, the surge in CF testing demand caused by ACMG/ACOG's promotion of broader population screening has outpaced scientific efforts to characterize several mutations commonly found on test panels used in clinical practice and research," said Dr. Pratt, investigator of "Development of genomic reference materials for cystic fibrosis testing.(4)" "The establishment of genomic DNA reference materials will promote CF testing accuracy across the U.S. lab industry and may be expected to advance CF research and development."



Quest Diagnostics and Genetic Screening

Quest Diagnostics is one of the leading providers of pre- and post-natal and carrier genetic screening. In March 2009, the company announced that it operates one of only three laboratories approved by the state of New York to perform microarray-based comparative genomic hybridization (aCGH) postnatal testing, using its ClariSure aCGH postnatal test, for copy-number chromosomal abnormalities implicated in mental retardation, birth defects, and autism spectrum and developmental disorders. The company also provides a broad-based population screening technology designed to help determine whether parents are carriers of the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation. In 2002, the company launched its CF Complete test, which enables physicians to identify rare mutations that cause CF by sequencing the complete coding sequence of the cystic fibrosis gene.



About Quest Diagnostics

Quest Diagnostics is the world's leading provider of diagnostic testing, information and services that patients and doctors need to make better healthcare decisions. The company offers the broadest access to diagnostic testing services through its network of laboratories and patient service centers, and provides interpretive consultation through its extensive medical and scientific staff. Quest Diagnostics is a pioneer in developing innovative diagnostic tests and advanced healthcare information technology solutions that help improve patient care. Additional company information is available at www.questdiagnostics.com.



(1) Grody W: Cystic fibrosis testing comes of age.  J Mol Diagn 2009, 173-175

(2) Hanta FM, Reburying A, Pang M, Redman JOB, Sun W, Strom CM:  Apparent homozygosity of a novel frame shift mutation in the CFTR gene because of a large deletion.  J Mol Diagn 2009, 253-256

(3) Schwartz KM, Pike-Buchanan LL, Muralidharan K, Redman JB, Wilson JA, Jarvis M, Cura MG, Pratt VM:  Identification of cystic fibrosis (CF) variants by PCR/oligonucleotide ligation (OLA) assay.  J Mol Diagn 2009, 211-215

(4) Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith WE, Holtegaard LM, Muralidharan K, Rohlfs EM, Tarleton J, Toji L, Barker SD, Kalman LV:  Development of genomic reference materials for cystic fibrosis testing.  J Mol Diagn 2009, 186-193





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