- CYSTIC FIBROSIS 39
Also known as: CYSTIC FIBROSIS DNA, CF DNA, CF MUTATION ANALYSIS, CFD, 4091, W101, CYSTIC FIBROSIS GENOTYPING 39, CF39
Orderable Code: W101
Test Contains (LOINC): Cystic Fibrosis Genotype 39 Mutations (38404-0)
Sample Type: Whole Blood
Preferred Container: EDTA (Lavender Top) Tube
Sample Volume: 5.0 mL
Minimal Sample Volume: 1.0 mL (does not allow for repeat testing)
Refrigerate specimen after collection.
Client Transport Temperature: Refrigerated
Specimen Stability: Ambient: 7 Days; Refrigerated: 1 Month; Frozen: 1 Month
Unsuitable Specimen: Heparizined specimens.
Frequency: Monday, Tuesday, Wednesday, Thursday, Friday
Expected Turn Around: 4 – 6 Days
Responsible Dept: Reference Lab
Referral Lab: SRL
Referral Lab Code: W101
Methodology: Polymerase chain reaction (PCR)/Luminex xMap Technology
Cystic fibrosis (CF) is one of the most common genetic disorders of the Western world and the most common life-threatening autosomal recessive disorder in the non-Hispanic white population. The Cystic Fibrosis 39 test is a qualitative in vitro diagnostic assay used to simultaneously detect 39 clinically relevant cystic fibrosis disease-causing mutations and variants of the cystic fibrosis transmembrane conductase regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood specimens. The variants include those recommended in 2004 by the American College of Medical Genetics (ACMG) and in 2011 by the American College of Obstetricians and Gynecologists (ACOG). The test is intended for carrier screening in adults of reproductive age, in confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. The variants reported in the Cystic Fibrosis 39 assay represent 23 CFTR gene mutations recommended by ACMG /ACOG plus 16 additional common mutations. The panel of mutations provides approximate mutation detection rates of 90.5, 73.8, 67.5, 48.9 and 94.0 percent in North American Caucasians, Hispanic Americans, African Americans, Asian Americans, and the Ashkenazi Jewish population, respectively.
Compliance Statement: FDA cleared or approved assay
Billing Status: Prior Authorization Required