Known Familial Copy Number Variant(s)
Use
Targeted testing for familial copy number variants (deletions or duplications) previously identified in a proband, allowing sensitive and specific confirmation in family members. This is particularly useful for confirming inheritance, assessing familial risk, or confirming variants of uncertain significance when prior testing was performed through GeneDx or another laboratory.
Special Instructions
If available, include a copy of the family member’s GeneDx report (or report from another lab) showing the familial CNV. For CNVs, contact GeneDx via the provided email to confirm test availability and gene coverage if needed. Parental (relative) specimens may be provided separately and, if clinical information is included, GeneDx may offer free parental analysis as appropriate.
Limitations
Targeted CNV testing is applicable only for known familial variants. Availability may need confirmation for some CNVs. The sensitivity and specificity depend on prior identification of the familial variant. Test cannot be automatically applied to novel CNVs or mosaic variants unless previously validated or discussed with GeneDx.
Methodology
Other
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Provide proband’s prior report; refer to standard Specimen Requirements page for acceptable specimen types (e.g., blood or cheek swab). Relative specimens should be received within three weeks of the patient's specimen.