Targeted Variants - Deletion/Duplication Testing
Use
The Targeted Variants - Deletion/Duplication Testing is designed for family members of patients who have tested positive for specific deletions, duplications, or inversions. This test helps in understanding the genetic variations within a family and aids in medical and genetic counseling decisions. It is specifically intended for individuals who need confirmation of a known familial deletion or duplication, providing critical genetic information for managing inherited conditions.
Special Instructions
This test is only available for family members of probands who were tested at PreventionGenetics and if the deletion or duplication was confirmed by PCR. Clients are advised to submit a positive control if the family member was tested at an outside laboratory. If a positive control is not submitted, negative results may carry a limitation. For detailed conditions, customers should refer to the Family Targeted Variant Testing Policy available on the PreventionGenetics website.
Limitations
The performance of this test is contingent upon the availability of a positive control sample. Without a positive control, negative results cannot be guaranteed as PreventionGenetics may not verify detection of the familial variant. Additionally, the test is limited to the targeted deletions and duplications already identified in a family member previously tested at PreventionGenetics, and may not detect de novo or other genetic variants.
Methodology
PCR-based (qPCR)
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
Not provided