The Luminex x-TAG® CF 39 kit and the illumina MiSeqDx® CF 139-Variant assay are intended for evaluation of carrier status in adults of reproductive age and for confirmatory diagnostic testing of newborns and children as well as an initial test to aid diagnosis of individuals with suspected cystic fibrosis.
MPLN has approval from New York State Department of Health to provide Cystic Fibrosis genetic testing. The tests offered by MPLN are FDA IVD cleared and include screening, diagnostic and therapeutic applications.
Objective and sensitive testing tools to track disease progression are necessary in young children where disease progression can occur without overt symptoms. Clinical sensitivity in patients and various ethnic populations has been found to increase with the number of detectable mutations.Many Insurance payers will cover CF NGS 139 Variant assay when necessary to establish diagnosis.
MPLN's complement of three molecular testing options support all clinically relevant indications for CFTR testing including genotyping and patient stratification for clinical trial enrollment.
(NYSDOH Clinical Laboratory Permit #8046)
M CF 39 The Luminex xTAG® Cystic Fibrosis (CFTR) 39 kit v2 (IVD)
Expanded pan-ethnic panel
M CF NGS 139 The illumina MiSeqDx® Cystic Fibrosis 139-Variant Assay (IVD)
Allows for the detection and simultaneous identification of a panel of 39 mutations and 4 variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The panel includes mutations and variants currently recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists (ACMG/ACOG), as well as additional mutations found to be prevalent in more ethnically diverse North American populations.
This Next Generation Sequence (NGS) based test detects 135 clinically relevant cystic fibrosis disease-causing mutations and 4 variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The panel includes mutations and variants currently recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists (ACMG/ACOG). Designed to capture the clinically validated CF causing mutations in the CFTR2 database, this pan ethnic expanded panel can be useful for increasing clinical sensitivity in more ethnically diverse populations or in clinical situations where CFTR molecular screening fails to identify a second pathogenic mutation in patients with a clinical diagnosis of CF.
CFTR Clinical Sequencing Assay by Illumina is the first FDA cleared test of any kind using next generation DNA sequencing. This targeted NGS based test re-sequences the protein coding regions and intron/exon boundaries of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The test detects single nucleotide variants and small indels within the region sequenced, and additionally reports on two deep intronic mutations and two large deletions. The test is intended to be used as an aid in the diagnosis of individuals with suspected cystic fibrosis (CF) and is most appropriate for use in patients with an atypical or non-classic presentation of CF or when other mutation panels have failed to identify two pathogenic CFTR mutations. This test is not appropriate as a first tier screening test and should be used in conjunction with other available information including clinical symptoms, other diagnostic tests, and a detailed family history.
Both the Luminex xTAG® Cystic Fibrosis (CFTR) 39 kit and the Illumina MiSeqDx® Cystic Fibrosis 139-Variant Assay have similar intended use indications.
Infants with elevated IRT on newborn screening (the IRT-DNA algorithm)
Infants with meconium ileus or other symptoms suggestive of CF who cannot produce an adequate sweat volume for analysis
Individuals who clinically present with symptoms suggestive of CF but have a negative sweat chloride result
Males with either congenital bilateral absence of the vas deferens (CBAVD) OR azoospermia or severe oligospermia
The Illumina MiSeqDx® Cystic Fibrosis Clinical Sequencing Assay is best utilized in clinical situations where: