Deletion/Duplication – Single Gene
Use
This test detects deletions or duplications in a specified gene at the exon level, aiding diagnosis in patients with clinical presentations suggestive of copy number variants. It offers targeted analysis when sequencing alone may miss exon-level alterations.
Special Instructions
Ordering requires completion of a sample submission requisition form and appropriate billing forms. Contact GeneDx if considering alternative specimen types such as buccal brushes—they may not be accepted for deletions/duplications. For prenatal referrals, additional requirements apply.
Limitations
Partial or single-exon deletions or duplications may not always be detected, and whole-gene deletions or duplications have variable detection depending on the gene. The method may not detect complex rearrangements or deep intronic variants.
Methodology
Other
Biomarkers
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
1–5 mL
Minimum Volume
Not provided
Container
EDTA tube
Storage Instructions
Refrigerate up to one week; ship overnight at ambient temperature with cool pack in hot weather.
Stability Requirements
| Temperature | Period |
|---|---|
| Refrigerated | 1 week |