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Cystic Fibrosis (CFTR) 3199del6 Mutation (INACTIVE as of 07/05/16: Refer to 2013661)
0050098
Ordering Recommendation
Mnemonic
CF3199DEL6
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Mon, Thu
Reported
2-7 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
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
Refrigerated. 
Unacceptable Conditions
Frozen specimens. 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable 
Reference Interval
Negative: The 3199del6 cystic fibrosis (CF) mutation was not detected in this sample. One copy of the clinically insignificant I148T CF variant was identified.This test is specific to the 3199del6 mutation and I148T variant; other CF mutations are not tested.
Interpretive Data
Background Information for Cystic Fibrosis (CFTR) 3199Del6 Mutation:
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.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
0050098Cystic Fibrosis (CFTR) 3199del6 Mutation34706-2
2001301Cystic Fibrosis (CFTR) 3199del6 Specimen31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • CFTR 3199del6