Sotos syndrome : NSD1 Deletion/Duplication (MLPA)

Test Information

NSD1 Deletion/Duplication (MLPA) is a molecular test used to detect copy number variants in the gene associated with Sotos syndrome. Sequencing of the NSD1 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately.


Turnaround Time

2 weeks

CPT Code(s)

81405

Cost

$500

Genes

Clinical Information

Sotos syndrome is an autosomal dominant overgrowth condition due to mutations 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.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

multiplex ligation-dependent probe amplification (MLPA)

Detection

Approximately 80-90% of patients with Sotos syndrome will have an identifiable abnormality in NSD1.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The 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.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Deletion/Duplication, MLPA, Molecular Testing
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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