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Y Chromosome Microdeletion, DNA Analysis
Test Code14679
CPT Codes
81403<br />
Preferred Specimen
4 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
ACD solution A (yellow-top) tube • ACD solution B (yellow-top) tube
Instructions
Whole blood: Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Extracted DNA: Please call 866-GENE-INFO (866-436-3463) for additional information.
Extracted DNA: Please call 866-GENE-INFO (866-436-3463) for additional information.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable
Refrigerated: 8 days
Frozen: Unacceptable
Methodology
Agarose Gel Electrophoresis • Polymerase Chain Reaction (PCR)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Sets up 1 day a week.
Limitations
This assay is limited to the detection of deletions that affect the markers listed above. We are unable to determine if the absence of a single marker is caused by a deletion or a nucleotide sequence variation in the binding site for one of the PCR primers used to amplify that marker. Although rare, false positive or false negative results may occur. All results should be interpreted in the context of clinical findings, relevant history, and other laboratory data.
Clinical Significance
To detect Y chromosome microdeletions associated with oligospermia and azoospermia. About 15-20% of azoospermic men and about 10% of severely oligospermic men present with microdeletions of Yq. This test targets 20 genetic loci, including those recommended by the European Quality Monitoring Network Group (Int J Andr 22:292-299 (1999).
