ARUP's Laboratory Test Directory
| 0050098: Cystic Fibrosis 3199del6 Only (ARUP Medical Director or Genetic Counselor approval required prior to testing) |
![[ image for: Patient History For Cystic Fibrosis]](icon_18.jpg){kind=icon} | Patient History For Cystic Fibrosis |
| Test Mnemonic: CF3199DEL6 | |
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Methodology: Polymerase Chain Reaction/Fluorescence Monitoring
Performed: Mon, Thu Reported: 2-7 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA) or pink (K2EDTA). Also acceptable: lt. blue (sodium citrate), green (sodium or lithium heparin), or yellow (ACD Solution A).
Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL) Remarks: Do not freeze. Unacceptable Conditions: Frozen samples. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| Negative: This sample is negative for 3199de16 and confirmed positive for I148T. Consequently, the patient's I148T cystic fibrosis mutation may represent a variant of mild clinical significance. This test is specific to the 3199del6 and I148T mutations; other mutations are not ruled out. |
| Interpretive Data: | |
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This test is specific for the cystic fibrosis (CF) 3199del6 mutation. Other mutations in the CFTR gene will not be detected. The 3199del6 mutation is offered to individuals who have a documented I148T mutation from a previous CF mutation panel. Homozygotes for 3199del6 have not been reported; therefore, the clinical severity of this mutation is unknown. However, compound heterozygotes for I148T/3199del6 and the common F508del mutation have symptoms of classical CF. The I148T mutation is part of the American College of Medical Genetics and American College of Obstetrics and Gynecology's recommended 25 mutations. Recent evidence indicates it may be a benign polymorphism unless it is located on the same chromosome (in cis) with 3199del6. I148T is represented in approximately 6% of CF carriers but only 0.06% of those affected with CF. Those with I148T who are affected with CF also have 3199del6 in cis. Patient DNA is assayed for the 3199del6 and I148T mutations in the CF gene by polymerase chain reaction (PCR) and fluorescence monitoring using hybridization probes. 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 at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
| 83890 Isolation; 83898 x2 Amplification; 83896 x4 Nucleic acid probes; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |