Targeted Deletion/Duplication Analysis (qPCR)
Key Information
Lab:
TAT:
34 days
Price:
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CPT Code(s):
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Test Code:
CACC
Targeted Deletion/Duplication Analysis (qPCR)
This test is used to analyze parents and family members for copy number variants (CNVs) identified in a proband via microarray.
Technical Information
Quantitative PCR (qPCR) is a molecular technique that allows the determination of dosage for specific sequences of interest. For this test, primer pairs specific to target sequence within the previously reported aberration are designed and validated for specificity and accuracy. This assay cannot detect balanced rearrangements such as inversions and balanced chromosomal translocations.
Specimen Requirements
The preferred sample type is 3-4ml of peripheral blood collected in an EDTA (purple top) tube. Additional accepted sample types include extracted DNA or saliva.
Send approximately 5µg of extracted DNA at a requested concentration of 90-130 ng/µl.
Saliva samples must be submitted in an approved saliva kit.
Blood and saliva kits are available by request.
Transport Instructions
Blood 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.
Extracted DNA should be sent at room temperature via overnight delivery.
Saliva is stable at room temperature and can be delivered via overnight or ground shipping.
Associated Tests
Connect With Our Experts
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC