Mutation List

INTROL CF Panel I Control is an FDA-cleared quality control intended for in vitro diagnostic use to monitor test systems used to detect 38 mutations associated with cystic fibrosis, including the 23 mutations recommended for testing by the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynecologists (ACOG). The INTROL CF Panel I Control also monitors 3 polymorphisms (I506V, I507V, F508C) and the 5/7/9T variants.

Cystic fibrosis (CF) is a fatal recessive hereditary disease characterized by thickened secretions that clog bronchi and pancreatic ducts. Over 1000 mutations have been identified in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene, but most are rare. The 23 mutations of the ACOG/ACMG panel are the most commonly found in the pan-ethnic US population. Exon 10 polymorphisms I506V, I507V and F508C are not associated with disease, but may interfere with test results and interpretation. One or two copies of the 5T variant are a genetic risk factor associated with congenital bilateral absence of the vas deferens (CBVD). The 5T variant is associated with CF only if there is also a CF mutation present.

Routine use of INTROL CF Panel I Control with each CF test run will assist the laboratory in the detection of immediate errors, and shifts or trends caused by changes in test system components. INTROL CF Panel I Control is to be extracted before analysis just as patient whole blood samples are, which allows the control to fit efficiently into normal laboratory work flow.

Each bottle of INTROL CF Panel I Control contains two synthetic gene segments of CFTR DNA suspended in a patented, non-infectious, blood-like matrix. The unique extractability characteristic provides monitoring of the extraction step as required by CLIA regulations and best laboratory practice. Each gene segment contains all 24 CFTR exons and their intronic borders linked together with varying configurations of mutant and wild type (normal) sequences. INTROL CF Panel I Control consists of three or four bottles, depending on the CF assay to be used. Each bottle contains a different combination of CFTR mutations, polymorphisms and wild type sequences. Please contact MMQCI at 207-885-1072 or e-mail us to determine the best version for your laboratory.

INTROL™ CF Panel I Control is provided for in vitro diagnostic use.

ORDERING INFORMATION:	Catalog No: G106
G106ac-1 contains:	3 bottles (a, b, c), 1 milliliter each
G106ac contains:	3 bottles (a, b, c), 2 milliliters each
G106de-1 contains:	4 bottles (a, b, d, e), 1 milliliter each
G106de contains:	4 bottles (a, b, d, e), 2 milliliters each
	* Please consult with MMQCI for best version for your CF test system.

Material Safety Data Sheet