•Determines if R117H and 5T are on the same chromosome.
- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 5 days; Frozen: Unacceptable
Sensitivity and specificity for detection of these mutations are 99 percent. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|0056006||Cystic Fibrosis (CFTR) Cis-Trans Interp|
- CFTR R117H and 5T mutations