Sotos syndrome (NSD1) sequencing and MLPA
| Disorder | Sotos syndrome | |
| Gene Name | NSD1 | |
| Clinical info | 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. Sequencing of the NSD1 gene and MLPA deletion/duplication analysis can be ordered concurrently, sequentially or separately. | |
| Indications | Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for prenatal diagnosis. | |
| Detection | Approximately 80-90% of patients with Sotos syndrome will have an identifiable abnormality in NSD1. | |
| Specimen Requirements | 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml | |
| Transport | The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. 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. | |
| Turnaround time | Sequencing: 6 weeks Deletion/Duplication: 2 weeks |
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| Prenatal testing | Prenatal diagnosis is available if the familial mutation is 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. | |
| CPT Codes | Sequencing - unknown mutation 81406 Known mutation 81403 MLPA analysis 81405 |
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| Cost |
$1500 for sequencing $1000 for prenatal known mutation testing |
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| Contact | For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411. | |
Form Needed
Download molecular-lab-request-form.pdf
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
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.