Targeted Deletion/Duplication Analysis (qPCR)

Turnaround Time

28 days

CPT Code(s)

81479

Cost

Parents of proband are done at no charge when the proband was tested at Greenwood. Other family members can be tested for familial CNVs for $350.

This test is used to analyze parents and family members for copy number variants (CNVs) identified in the proband via microarray.

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Additional specimen types include: saliva and extracted DNA. Please contact the lab for more details.

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.