•Detects the presence of I148T variant and 3199del6 mutation only.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Do not freeze. Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Frozen specimens.
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Characteristics:The benign cystic fibrosis (CF) variant, I148T, is included in some CF mutation panels. Approximately 2 percent of individuals with the I148T variant also carry, the CF disease-causing mutation, 3199del6, on the same chromosome.
Incidence of Classic CF: 1 in 3,000 Caucasians or Ashkenazi Jewish, 1 in 8,000 Hispanics, 1 in 15,000 African American, 1 in 32,000 Asians.
Carrier frequency: 1 in 25 in European Caucasians and Ashkenazi Jews, 1 in 46 Hispanics, 1 in 65 African Americans, 1 in 90 Asian Americans
Inheritance: Autosomal recessive.
Cause:CF is caused by two pathogenicCFTR mutations on opposite chromosomes.
Methodology: Polymerase chain reaction (PCR) and fluorescent hybridization probes for the I148T (c.443T>C) variant and 3199del6 (c.3067_3072delATAGTG) mutation.
Analytical Sensitivity & Specificity: 99 percent
Limitations: This test is specific for the cystic fibrosis (CF) 3199del6 mutation and I148T variant. Other mutations in the CFTR gene will not be detected. Diagnostic errors can occur due to rare sequence variations.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0050098||Cystic Fibrosis (CFTR) 3199del6 Mutation||34706-2|
|2001301||Cystic Fibrosis (CFTR) 3199del6 Specimen||31208-2|
- CFTR 3199del6