21 - 28 days
PTEN Del/Dup Shadow
PTEN Del/Dup Analysis
PTEN Gene Deletion and Duplication Analysis
Bannayan-Riley-Ruvalcaba Syndrome (BRRS)
Cowden Syndrome (CS)
Cowden Disease (CD)
Autism / Intellectual Disability
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MLPA probes hybridize to target regions of the PTEN gene and are amplified by multiplex PCR. The amplification products are analyzed by capillary electrophoresis and copy numbers for these PTEN target regions are generated.
This test is used to detect the presence of PTEN (OMIM:601728) deletions and duplications. PTEN gene deletion and duplication analysis can be performed on a patient whose PTEN sequence analysis was negative and for carrier testing in families with a known PTEN deletion/duplication. Approximately 10% of individuals with Bannayan-Riley-Ruvalcaba syndrome (BRRS), who do not have a mutation detected in the PTEN coding sequence, have deletions within or encompassing the PTEN gene (Zhou et al., Am J Hum Genet. 2003b;73:404–11). Also, PTEN gene deletions have been reported in Cowden syndrome (CS) patients (Zbuk et al. Nat Rev Cancer.2007; 7:35–45; GeneReviews).
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….