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Y-Chromosome Microdeletion Assay

• Introduction
• Indication for testing
• Detection Method
• Interpretation of Results
• Specimen Collection and Shipping Requirements

Y-Chromosome Microdeletion Assay related to Recurrent Pregnancy Loss (MYC/RPL)
Introduction
While Y chromosome deletions were initially reported to be associated with Infertility due to oligo-azospermia, more recently sequence tagged site in the proximal AZFc region of the Y chromosome have been shown to be microdeleted among men whose partners experiences recurrent pregnancy loss.

Indication for Testing
All men of couples experiencing recurrent pregnancy loss should be tested for IYC/RPL

Detection Method
Four chromosomal sites are analyzed for Y chromosome deletions:

• DYS262
• DYS220
• DYF85S1
• DYF86F1

Interpretation of Results
Results are reported as Y chromosome microdeletions presence or absent.

Specimen Collection, Handling and Shipping Requirements

• Collect a sample DNA with a buccal swab.
• Ship at room temperature in prepaid FedEx mailer overnight, next day delivery.