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Cystic Fibrosis Luminex x-TAG 39 Variant Assay

Test Code

M CF 39

Associations

Cystic fibrosis carrier and diagnostic

Methodology

Polymerase chain reaction (PCR) / Allele Specific Primer Extension (ASPE)

Turnaround Time

5-7 days

Specimen Requirements

5.0 mL (min. 3.0 mL) whole blood EDTA preferred, ACD accepted

Specimen Stability
Ambient (18-25°C): 72 hours; Refrigerated (2-8°C): 30 days; Frozen: Unacceptable
Storage & Handling

Ship blood specimen at ambient temperature.
If shipment is delayed, store blood at 2–8°C and ship with a cool/refrigerated pack.(Do not allow the sample to be in direct contact with the cool pack.)

Causes for Rejection

Insufficient DNA material; Frozen; Clotted; Severely hemolyzed whole blood specimen; frozen sample

Reference Range

See report

Description

The Luminex xTAG® Cystic Fibrosis (CFTR) 39 kit v2 (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.

Population-based CF carrier screening is recommended for:

  • Individuals with a family history of CF

  • Reproductive partners of individuals with CF

  • Couples who are planning a pregnancy or seeking prenatal care

    References
    1. Grody WW. (2009). Cystic fibrosis testing comes of age. J Mol Diagn. 11:173-175.
    2. American College of Medical Genetics (2006). Technical standards and guidelines for CFTR mutation testing.
    3. Committee on Genetics. (2011). The American College of Obstetricians and Gynecologists Committee Opinion. Update on Carrier Screening for Cystic Fibrosis 486: 1-4.
    4. Watson MS et al. (2004). Cystic fibrosis carrier screening: 2004 revision of the American College of Medical Genetics mutation panel. Genet Med. 6:387-391.
      Trademarks

      xTAG is a trademark of Luminex