CFTR Deletion/Duplication Analysis
Use
The CFTR Comprehensive - Deletion/Duplication Analysis Familial Mutation/Variant Analysis is designed to detect known familial deletions/duplications in the CFTR gene specifically for patients related to a previously identified familial variant. This analysis holds significant implications for symptomatic patients with a history of cystic fibrosis and those planning pregnancies with known familial variants. Accurate identification of these mutations can guide clinical decisions, carrier screening, and ultimately assist in managing cystic fibrosis effectively. Noteworthy, cystic fibrosis is inherited in an autosomal recessive manner, meaning that both parents often must carry the variant for an affected child to emerge. Given possible implications for family planning, early detection is pivotal.
Special Instructions
Testing must be discussed with a genetic counselor if the original variant was identified elsewhere. A laboratory report with variant information and the relative’s clinical status must accompany the specimen. This process ensures that the testing is beneficial and accurately reflects the family’s medical history related to cystic fibrosis. Specimens should be collected with care to enhance cell viability, and samples must be shipped under prescribed conditions to ensure integrity. Proper communication with genetic counselors and accurate documentation are crucial to the workflow, maximizing the clinical relevance of test results.
Limitations
This analysis is specifically applicable to familial variants that have been previously established; therefore, if a familial variant is not known, this testing may not provide conclusive results. The detection of deletions/duplications does not always measure the clinical severity or impact of the condition. In cases where only one familial variant has been identified, there could be undetected variants that remain untested, potentially leading to incomplete information regarding the genetic profile. The limitations underscore the importance of comprehensive genetic counseling and familial testing to address untested variants.
Methodology
Other
Biomarkers
Result Turnaround Time
14 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Fresh)
Volume
5 cubic millimeters
Minimum Volume
5 cubic millimeters
Container
Sterile container with RPMI media
Collection Instructions
Collect from a central location (e.g., buttock or upper thigh) to enhance cell viability.
Storage Instructions
Ship at ambient temperature (18–25°C/64–77°F). Protect from excessive heat, ship in a cooled container during summer months.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |