PTEN-Related Disorders: PTEN Deletion/Duplication MLPA

Clinical Information

PTEN variants are associated with autism/macrocephaly and PTEN-related hamartoma tumor syndromes.

Technical Information

• This test is performed using Multiplex Ligation-dependent Probe Amplification (MLPA).
• MLPA analysis is performed to determine if deletions or duplications involving the PTEN gene are present. MLPA is a molecular technique that allows the determination of dosage for specific sequences of interest (Schouten et al. (2002) Nucleic Acids Research 30:e57).
• Probes for all nine PTEN exons, in combination with a variety of control probes, are analyzed and quantified. MLPA analysis is able to detect potential changes such as large deletions or duplications that can be missed by routine DNA sequencing or other standard PCR-based methodologies. Large deletions involving the PTEN gene have been reported in individuals with Bannayan-Riley-Ruvalcaba syndrome (Zhou et al. (2003) Am J Hum Genet. 73:404) and in individuals with Cowden disease (Tsuchiya et al. (1998) Genes Chromosomes Cancer 21:113-8).

Specimen Requirements

• The preferred sample type is 3-4 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA and saliva are also accepted for this test. Blood and saliva kits are available by request.
• Send approximately 5 µg of extracted DNA at a requested concentration of 90-130 ng/µl.
• Saliva samples must be submitted in an approved saliva kit.

Transport Instructions

• The 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.