Whole Blood (preferred sample type): 1 FULL vacutainer with ACD A or B, EDTA, or Heparin (ACD is preferred but not required)
Buccal swabs: Collect two foam-tipped swabs prior to food or drink, or after thoroughly rinsing mouth with water
[Preferred swab: Puritan cat. no. 25-1506 1PF. Available from Andwin Scientific at 951.674.5646 for distribution information.]
Buccal Swab: Collect 2 buccal swabs from inside of cheek prior to food or drink. If not possible, rinse mouth thoroughly with water prior to swabbing.Collect buccal swab samples by brushing the inside surface of 1 cheek with moderate pressure, approximately 20 times. Repeat this process with a second swab on the opposite cheek. Clearly label the sterile swab sleeve with collection date, the patient's first and last name, and patient ID number or birth date. Return swabs to sterile packaging, seal with tape.
Minimum volume: 1mL whole blood or 2 buccal swabs
Buccal Swab: Place swabs in sterile packaging, seal with tape, and ship samples in a padded envelope at room temperature.
Blood: Send blood Priority Overnight via FedEx and in a well insulated container on an ice pack. Specimen must be received in the laboratory within 24 hours of collection.
The intended use of this test is to detect the presence of at least one of five mutations (R501X, 2282del4, R2447X,S3247X and 3702delG) in the filaggrin gene (FLG) strongly associated with the following conditions: Atopic dermatitis (AD), Ichthyosis vulgaris (IV), Asthma, and allergic sensitization. The filaggrin protein is a major component of the skin and the mutations targeted in this test cause a loss of or reduced expression of the protein in the skin. Results from this test may provide prognostic and risk assessment information for these diseases. The results are adjunctive to the ordering physician’s clinical assessment, and not intended to be used as the sole means for clinical diagnosis or patient management decisions. This test was developed and its performance characteristics determined by Advanced Diagnostics Laboratory at National Jewish Health. This test has not been cleared or approved by the U.S. Food and Drug Administration. The laboratory is regulated under the Clinical Laboratory Improvement Amendments (CLIA) of 1988 and the College of American Pathologists (CAP).
Informed Consent is required prior to completing any of the following tests. Consent must be obtained by the provider and maintained in the patient medical record. Download and print an informed consent form here.
Twice a Month
Real Time PCR
Within 14 days from when specimen is received in the laboratory.
Molecular Diagnostics Lab