Sotos Syndrome: NSD1 Deletion/Duplication MLPA

Clinical Information

Sotos syndrome is an autosomal dominant overgrowth condition due to variants in the NSD1 gene, which has been localized to 5q35. Individuals present with a typical facial appearance, including a long narrow face and prominent narrow jaw, down-slanting palpebral fissures, frontal bossing, malar flushing and a sparsity of hair in the frontotemporal region. Developmental delay is also a common feature.

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 NSD1 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 23 NSD1 coding exons, in combination with a variety of control probes, are analyzed and quantified.

Specimen Requirements

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

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.