CHEK2 Sequencing and Deletion/Duplication
Use
This germline genetic test analyzes single-nucleotide variants, deletions, and duplications in the CHEK2 gene. It is clinically indicated for individuals with a personal or family history of cancers such as breast, colon, prostate, stomach, thyroid, renal, or melanoma. Informed consent following genetic counseling is strongly recommended, and testing of the youngest affected family member when possible may be appropriate.
Special Instructions
Not provided.
Limitations
A negative result does not eliminate hereditary risk and interpretations rely on current variant classifications. Variants of uncertain significance (VUS) may be returned; the significance of such variants may change over time and interpretation depends on available evidence. Patients and clinicians are encouraged to check for variant updates periodically.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
2 mL whole blood
Container
EDTA (lavender-top) or ACD (yellow-top) tube