Cystic Fibrosis Intron 8 5T/7T/9T Mutation Analysis
Test Code
CF 5T
Associations
CF Intron 8 reflex diagnostic and carrier
Methodology
Polymerase Chain Reaction (PCR) / Oligonucleotide Ligation Assay
CPT Codes
83891 - Molecular isolation
83900 - amplification, target, multiplex, first 2 nucleic acid sequences
83901 x31 – Amplification each multiplex reaction
83909 - Separation by capillary electrophoresis
83914 x2 – Mutation identification (OLA)
83912 – Interpretation and report
83900 - amplification, target, multiplex, first 2 nucleic acid sequences
83901 x31 – Amplification each multiplex reaction
83909 - Separation by capillary electrophoresis
83914 x2 – Mutation identification (OLA)
83912 – Interpretation and report
Turnaround Time
7-10 days
Specimen Requirements
- 5.0 mL (min. 3.0 mL) whole blood EDTA preferred, ACD accepted
- 2 swabs of buccal cells in transport medium (provided)
- 2.0 mL (min. 1.0 mL) ThinPrep® PAP solution or SurePath™ Test Pack
Specimen Stability
- Blood stable at 18-25°C for 24 hours or 2-8°C for 4 days
- Buccal swab in transport medium and ThinPrep PAP solution or SurePath Test Pack stable at 18-25°C for 21 days
Storage & Handling
- Ship blood specimen at ambient temperature
- If shipment is delayed, store blood at 2–8°C and ship with an ice pack (Do not allow the sample to be in direct contact with the ice pack)
- Ship buccal swabs in transport medium ambient
- Ship ThinPrep solution or SurePath Test Pack ambient
Causes for Rejection
Insufficient DNA material; Frozen; Clotted or severely hemolyzed whole blood specimen
Reference Range
See report
Related Content
Please provide ethnicity and family history along with the attached genetic testing consent form.
Click here for patient consent form
Description
Performed as a reflex test if a R117H mutation is found during routine CF carrier screening in accordance with guidelines from the American College of Obstetricians and the American College of Medical Genetics.
References
- Grody WW. (2009). Cystic fibrosis testing comes of age. J Mol Diagn. 11:173-175.
- American College of Medical Genetics (2006). Technical standards and guidelines for CFTR mutation testing.
- Watson MS et al. (2004). Cystic fibrosis carrier screening: 2004 revision of the American College of Medical Genetics mutation panel. Genet Med. 6:387-391.
*PCR is performed under license agreement with Hoffman-LaRoche, Inc.
Trademarks
ThinPrep is a registered trademark of Cytyc Corportation.
SurePath is a trademark of Becton, Dickinson and Company.
SurePath is a trademark of Becton, Dickinson and Company.
