Cystic Fibrosis 32 Mutation Analysis Panel
Test Code
CF
Associations
Cystic fibrosis carrier and diagnostic
Methodology
Polymerase chain reaction (PCR) / Oligonucleotide ligation assay
CPT Codes
83891 – Molecular isolation
83900 - amplification, target, multiplex, first 2 nucleic acid sequences
83901 x30 – Amplification each multiplex reaction
83909 - Separation by capillary electrophoresis
83914 x32 – Mutation identification (OLA)
83912 – Interpretation and report
83900 - amplification, target, multiplex, first 2 nucleic acid sequences
83901 x30 – Amplification each multiplex reaction
83909 - Separation by capillary electrophoresis
83914 x32 – 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 at ambient
- Ship ThinPrep solution or SurePath Test Pack ambient
Causes for Rejection
Insufficient DNA material; Frozen; Clotted; 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
If a R117H mutation is found during routine CF carrier screening reflex to Cystic Fibrosis intron 8 5T/7T/9T test can be performed.
If a R117H mutation is found during routine CF carrier screening reflex to Cystic Fibrosis intron 8 5T/7T/9T test can be performed.
Description
Population-based CF carrier screening is recommended for:
Individuals with a family history of CF
Reproductive partners of individuals with CF
Couples who are planning a pregnancy or seeking prenatal care
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.
